R101C (p.Arg101Cys) variant of CASP3 (Caspase-3)
R101C (p.Arg101Cys) in CASP3 (Caspase-3) 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.
R101C (p.Arg101Cys) variant details
- p.Arg101Cys
- rs567223280
- NCI-TCGA Cosmic COSV5772
- cosmic curated COSV57725
- ExAC rs567223280
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.15
- CADD 4.42
- PolyPhen-2 0.01
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available