G40V (p.Gly40Val) variant of CYP2C19 (Cytochrome P450 2C19)
G40V (p.Gly40Val) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G40V (p.Gly40Val) variant details
- p.Gly40Val
- gnomAD rs1848190686
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.48
- MetaLR 0.26
- MetaSVM -0.30
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.117