R116H (p.Arg116His) variant of CASP9 (Caspase-9)
R116H (p.Arg116His) in CASP9 (Caspase-9) 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 0.12 / 1. The record also includes population frequency data and structural context.
R116H (p.Arg116His) variant details
- p.Arg116His
- rs748471490
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10042
- ExAC rs748471490
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.13
- CADD 7.11
- PolyPhen-2 0.26
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available