D49V (p.Asp49Val) variant of CYP2C19 (Cytochrome P450 2C19)
D49V (p.Asp49Val) in CYP2C19 (Cytochrome P450 2C19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D49V (p.Asp49Val) variant details
- p.Asp49Val
- gnomAD rs1249995558
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.26
- MetaLR 0.36
- MetaSVM -0.78
- CADD 22.80
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.823