R56K (p.Arg56Lys) variant of CASP9 (Caspase-9)
R56K (p.Arg56Lys) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R56K (p.Arg56Lys) variant details
- p.Arg56Lys
- ExAC rs761860226
- TOPMed rs761860226
- gnomAD rs761860226
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.19
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available