A20S (p.Ala20Ser) variant of CASP8 (Caspase-8)
A20S (p.Ala20Ser) in CASP8 (Caspase-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- gnomAD 2-201266544-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- CADD 22.10
- PolyPhen-2 0.93
- SIFT 0.09
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available