G40R (p.Gly40Arg) variant of CYP2C19 (Cytochrome P450 2C19)
G40R (p.Gly40Arg) 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 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G40R (p.Gly40Arg) variant details
- p.Gly40Arg
- gnomAD rs1246606655
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.42
- MetaLR 0.23
- MetaSVM -0.20
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.117