R51W (p.Arg51Trp) variant of CASP9 (Caspase-9)
R51W (p.Arg51Trp) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R51W (p.Arg51Trp) variant details
- p.Arg51Trp
- ESP rs138834648
- ExAC rs138834648
- TOPMed rs138834648
- gnomAD rs138834648
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.37
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available