D40V (p.Asp40Val) variant of CASP8 (Caspase-8)
D40V (p.Asp40Val) in CASP8 (Caspase-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
D40V (p.Asp40Val) variant details
- p.Asp40Val
- gnomAD 2-201266605-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 25.70
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available