A41V (p.Ala41Val) variant of CASP8 (Caspase-8)
A41V (p.Ala41Val) in CASP8 (Caspase-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
A41V (p.Ala41Val) variant details
- p.Ala41Val
- TOPMed rs1356214774
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- CADD 22.80
- PolyPhen-2 0.66
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available