R32H (p.Arg32His) variant of CASP9 (Caspase-9)
R32H (p.Arg32His) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R32H (p.Arg32His) variant details
- p.Arg32His
- ExAC rs779123821
- gnomAD rs779123821
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.14
- CADD 23.60
- PolyPhen-2 0.96
- SIFT 0.02
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available