D2V (p.Asp2Val) variant of CYP2C19 (Cytochrome P450 2C19)
D2V (p.Asp2Val) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D2V (p.Asp2Val) variant details
- p.Asp2Val
- gnomAD 10-94762710-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.29
- MetaLR 0.35
- MetaSVM -0.47
- CADD 19.70
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.987
- Literature evidence available