D46H (p.Asp46His) variant of CYP2C19 (Cytochrome P450 2C19)
D46H (p.Asp46His) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D46H (p.Asp46His) variant details
- p.Asp46His
- gnomAD 10-94762841-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.19
- MetaLR 0.31
- MetaSVM -0.69
- CADD 18.80
- PolyPhen-2 0.53
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.538
- Literature evidence available