D46G (p.Asp46Gly) variant of CYP2C19 (Cytochrome P450 2C19)
D46G (p.Asp46Gly) in CYP2C19 (Cytochrome P450 2C19) is a missense change. Clinical records from ClinVar 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 0.17 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D46G (p.Asp46Gly) variant details
- p.Asp46Gly
- ExAC rs755882715
- gnomAD rs755882715
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.17
- MetaLR 0.15
- MetaSVM -0.96
- CADD 8.65
- PolyPhen-2 0.04
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.538