CFAP44

cilia and flagella associated protein 44

Summary

Enables peptidase activity. Involved in sperm axoneme assembly. Acts upstream of or within microtubule cytoskeleton organization. Predicted to be located in cytoplasm; cytoskeleton; and motile cilium. Implicated in spermatogenic failure 20. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants131 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs757256113	3:113,010,416	G/A	—	likely benign
rs186037743	3:113,010,434	T/C	—	likely benign
rs371164920	3:113,010,436	G/A	—	likely benign
rs377654876	3:113,010,518	C/T	—	likely benign
rs761027247	3:113,010,524	G/C	—	likely benign
rs369806513	3:113,010,551	T/C	—	benign
rs763717583	3:113,013,634	A/G	—	uncertain significance
rs1576532853	3:113,013,641	G/A	—	likely benign
rs148547745	3:113,015,647	A/T	—	benign
rs201886712	3:113,015,687	C/T	—	uncertain significance
rs185086524	3:113,022,889	G/A	—	benign
rs62001862	3:113,023,898	C/T	—	likely benign
rs373397037	3:113,023,949	A/C	—	benign
rs2270784	3:113,024,002	G/A	—	benign
rs75447378	3:113,025,288	C/G	intron variant	—
rs2473839591	3:113,027,015	A/G	—	likely benign
rs111640200	3:113,030,305	A/G	intron variant	—
rs368696742	3:113,045,300	C/T	—	uncertain significance
rs58191991	3:113,045,325	G/A	—	benign
rs774046504	3:113,045,330	A/T	—	uncertain significance
rs761606549	3:113,045,460	T/C	—	uncertain significance
rs200617587	3:113,045,485	C/A	—	benign
rs13064411	3:113,046,640	A/G	synonymous variant	—
rs748434148	3:113,049,023	C/T	—	uncertain significance
rs190795704	3:113,049,044	C/T	—	likely benign
rs187266046	3:113,049,189	A/T	—	benign
rs145492370	3:113,049,216	T/C	—	benign
rs1182143129	3:113,049,255	G/A	—	likely benign
rs1051686453	3:113,049,330	C/T	—	likely benign
rs61732432	3:113,049,363	A/T	—	benign
rs909097787	3:113,049,369	G/A	—	likely benign
rs61732433	3:113,049,376	G/T	—	likely benign
rs2473890594	3:113,049,444	C/T	—	likely benign
rs761359904	3:113,049,486	C/T	—	likely benign
rs11921768	3:113,052,245	A/G	—	likely benign
rs1576552714	3:113,052,292	A/C	—	likely benign
rs780714673	3:113,052,361	C/A	—	likely benign
rs149077800	3:113,060,745	C/T	—	conflicting classifications of pathogenicity
rs116266837	3:113,063,449	C/T	—	benign
rs1262272674	3:113,063,450	G/A	—	pathogenic
rs76055909	3:113,077,614	C/T	—	conflicting classifications of pathogenicity
rs776405406	3:113,077,615	G/A	—	likely benign
rs1040176702	3:113,077,681	T/C	—	likely benign
rs149130341	3:113,082,043	A/T	—	likely benign
rs776728539	3:113,082,082	C/T	—	likely benign
rs151318445	3:113,082,086	C/T	—	benign
rs141547615	3:113,082,087	G/A	—	uncertain significance
rs1337725438	3:113,082,104	A/G	—	uncertain significance
rs769077379	3:113,082,387	A/G	—	likely benign
rs200691785	3:113,084,896	G/A	—	uncertain significance
rs35480872	3:113,084,922	T/C	—	likely benign
rs761708225	3:113,085,042	C/T	—	uncertain significance
rs779202601	3:113,085,070	C/T	—	uncertain significance
rs74521061	3:113,085,143	C/T	—	benign
rs912714841	3:113,092,279	G/C	—	uncertain significance
rs143011495	3:113,092,306	C/T	—	conflicting classifications of pathogenicity
rs763039505	3:113,092,307	G/A	—	uncertain significance
rs2473984990	3:113,092,345	C/T	—	uncertain significance
rs751009539	3:113,092,348	C/T	—	likely benign
rs150695313	3:113,092,365	G/T	—	conflicting classifications of pathogenicity
rs533778119	3:113,092,380	T/C	—	likely benign
rs1376556143	3:113,092,396	T/C	—	uncertain significance
rs202129117	3:113,098,176	G/C	—	uncertain significance
rs368620724	3:113,098,233	G/C	—	uncertain significance
rs2473997701	3:113,098,343	C/A	—	uncertain significance
rs2473997723	3:113,098,348	T/A	—	uncertain significance
rs2473997829	3:113,098,387	T/G	—	uncertain significance
rs780798708	3:113,099,792	—	—	pathogenic
rs1576581308	3:113,099,854	T/C	—	likely benign
rs368080560	3:113,114,615	C/T	—	uncertain significance
rs780209905	3:113,114,655	A/G	—	uncertain significance
rs762760856	3:113,115,375	A/T	missense variant	pathogenic
rs141847284	3:113,115,376	G/C	—	conflicting classifications of pathogenicity
rs2474032592	3:113,115,382	C/T	—	uncertain significance
rs145391746	3:113,115,480	G/A	—	likely benign
rs369907197	3:113,115,502	G/T	—	uncertain significance
rs778660581	3:113,115,538	C/G	—	uncertain significance
rs377503120	3:113,115,579	G/A	—	likely benign
rs558551986	3:113,118,757	C/T	—	uncertain significance
rs140307657	3:113,118,798	C/T	—	conflicting classifications of pathogenicity
rs2474039053	3:113,118,818	T/G	—	uncertain significance
rs150348327	3:113,118,838	C/T	—	uncertain significance
rs75322072	3:113,119,409	G/A	—	likely benign
rs73237120	3:113,119,417	A/G	—	likely benign
rs761758858	3:113,119,425	G/A	—	uncertain significance
rs140356033	3:113,119,440	C/T	—	likely benign
rs149237909	3:113,119,462	G/C	—	uncertain significance
rs781516982	3:113,119,468	G/C	—	uncertain significance
rs866096259	3:113,119,479	C/A	stop gained	pathogenic
rs761534181	3:113,119,499	T/C	—	likely benign
rs1422604771	3:113,120,454	C/A	—	likely pathogenic
rs143438550	3:113,120,482	G/A	—	likely benign
rs2474043582	3:113,120,516	A/G	—	uncertain significance
rs140218323	3:113,120,586	T/C	—	uncertain significance
rs1934205302	3:113,122,698	C/T	—	pathogenic
rs373603281	3:113,122,744	C/T	—	likely benign
rs1254679542	3:113,122,758	T/A	—	uncertain significance
rs149761596	3:113,122,799	A/G	—	uncertain significance
rs368436860	3:113,125,794	T/C	—	uncertain significance
rs1341231955	3:113,125,829	A/G	—	uncertain significance

Showing 100 of 131 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.