V8A (p.Val8Ala) variant of CYP2C19 (Cytochrome P450 2C19)
V8A (p.Val8Ala) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V8A (p.Val8Ala) variant details
- p.Val8Ala
- ExAC rs757485026
- gnomAD rs757485026
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.10
- MetaLR 0.18
- MetaSVM -0.93
- CADD 9.88
- PolyPhen-2 0.24
- SIFT 0.10
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.791