R7W (p.Arg7Trp) variant of CASP9 (Caspase-9)
R7W (p.Arg7Trp) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R7W (p.Arg7Trp) variant details
- p.Arg7Trp
- ExAC rs748378528
- TOPMed rs748378528
- gnomAD rs748378528
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.12
- CADD 23.80
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available