F3V (p.Phe3Val) variant of CASP8 (Caspase-8)
F3V (p.Phe3Val) in CASP8 (Caspase-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
F3V (p.Phe3Val) variant details
- p.Phe3Val
- gnomAD 2-201266493-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 23.30
- PolyPhen-2 0.54
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available