C10R (p.Cys10Arg) variant of CYP2C19 (Cytochrome P450 2C19)
C10R (p.Cys10Arg) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
C10R (p.Cys10Arg) variant details
- p.Cys10Arg
- 1000Genomes rs200381600
- ExAC rs200381600
- gnomAD rs200381600
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.15
- MetaLR 0.19
- MetaSVM -0.88
- CADD 16.40
- PolyPhen-2 0.35
- SIFT 0.14
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.537