R125H (p.Arg125His) variant of CYP2C8 (Cytochrome P450 2C8)
R125H (p.Arg125His) in CYP2C8 (Cytochrome P450 2C8) 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 0.34 / 1. The record also includes population frequency data and structural context.
R125H (p.Arg125His) variant details
- p.Arg125His
- rs775342549
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10098
- ExAC rs775342549
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.18
- CADD 19.40
- PolyPhen-2 0.45
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available