D46V (p.Asp46Val) variant of CYP2C19 (Cytochrome P450 2C19)
D46V (p.Asp46Val) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D46V (p.Asp46Val) variant details
- p.Asp46Val
- ExAC rs755882715
- gnomAD rs755882715
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.32
- MetaLR 0.28
- MetaSVM -0.64
- CADD 17.90
- PolyPhen-2 0.93
- SIFT 0.01
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.538