rs72558184

This is a variant in the CYP2C19 gene that changes a arginine to an glutamine.

Key Literature Trait Associations

Drug Metabolism (CYP2C19)

CYP2C19*6 (R433W) is a rare loss-of-function allele caused by a missense mutation in exon 9 that substitutes arginine with tryptophan at position 433. This substitution disrupts protein folding and abolishes CYP2C19 enzymatic activity, resulting in no metabolism of prodrugs such as clopidogrel to their active metabolites. Carriers are classified as intermediate or poor metabolizers by CPIC guidelines.

Scott SA et al. “Clinical Pharmacogenetics Implementation Consortium guidelines for CYP2C19 genotype and clopidogrel therapy: 2013 update.” Clinical Pharmacology and Therapeutics 94(3):317-323 (2013)

Allele A

OR —

p —

Major Consortium Study

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ClinVar annotation

Drug Response★★★★

CYP2C19: no function; Citalopram response; Clopidogrel response; Escitalopram response; Sertraline response; Voriconazole response

View on ClinVar →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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