D2E (p.Asp2Glu) variant of CYP2C19 (Cytochrome P450 2C19)
D2E (p.Asp2Glu) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D2E (p.Asp2Glu) variant details
- p.Asp2Glu
- gnomAD 10-94762711-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.15
- MetaLR 0.16
- MetaSVM -0.89
- CADD 0.46
- PolyPhen-2 0.42
- SIFT 0.06
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.987
- Literature evidence available