D49E (p.Asp49Glu) variant of CYP2C19 (Cytochrome P450 2C19)
D49E (p.Asp49Glu) in CYP2C19 (Cytochrome P450 2C19) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D49E (p.Asp49Glu) variant details
- p.Asp49Glu
- NCI-TCGA Cosmic COSV6490
- cosmic curated COSV64907
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.09
- MetaLR 0.20
- MetaSVM -0.99
- CADD 1.41
- PolyPhen-2 0.04
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.823