D2H (p.Asp2His) variant of CYP2C19 (Cytochrome P450 2C19)
D2H (p.Asp2His) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D2H (p.Asp2His) variant details
- p.Asp2His
- ESP rs377381376
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.19
- MetaLR 0.48
- MetaSVM -0.81
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.987