R116C (p.Arg116Cys) variant of CASP9 (Caspase-9)
R116C (p.Arg116Cys) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
R116C (p.Arg116Cys) variant details
- p.Arg116Cys
- ExAC rs754102522
- TOPMed rs754102522
- gnomAD rs754102522
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.12
- CADD 13.30
- PolyPhen-2 0.35
- SIFT 0.05
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available