D46E (p.Asp46Glu) variant of CYP2C19 (Cytochrome P450 2C19)
D46E (p.Asp46Glu) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D46E (p.Asp46Glu) variant details
- p.Asp46Glu
- gnomAD rs1482062620
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.07
- MetaLR 0.19
- MetaSVM -0.89
- CADD 11.20
- PolyPhen-2 0.57
- SIFT 0.09
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.538