D46Y (p.Asp46Tyr) variant of CYP2C19 (Cytochrome P450 2C19)
D46Y (p.Asp46Tyr) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D46Y (p.Asp46Tyr) variant details
- p.Asp46Tyr
- gnomAD 10-94762841-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.25
- MetaLR 0.25
- MetaSVM -0.75
- CADD 15.70
- PolyPhen-2 0.44
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.538
- Literature evidence available