F65C (p.Phe65Cys) variant of CYP2C19 (Cytochrome P450 2C19)
F65C (p.Phe65Cys) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F65C (p.Phe65Cys) variant details
- p.Phe65Cys
- gnomAD 10-94775083-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.48
- MetaLR 0.44
- MetaSVM -0.34
- CADD 24.90
- PolyPhen-2 0.93
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.986
- Literature evidence available