V5A (p.Val5Ala) variant of CYP2C19 (Cytochrome P450 2C19)
V5A (p.Val5Ala) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V5A (p.Val5Ala) variant details
- p.Val5Ala
- gnomAD 10-94762719-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.07
- MetaLR 0.20
- MetaSVM -0.88
- CADD 8.11
- PolyPhen-2 0.06
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 1.16
- Literature evidence available