rs779530889

This variant is located in the METAP1 gene.

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ClinVar annotation

Likely Pathogenic

1 submitter1 publication

Intellectual disability

About METAP1

Enables aminopeptidase activity. Involved in protein maturation. Predicted to be located in cytoplasm. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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