L44S (p.Leu44Ser) variant of CASP8 (Caspase-8)
L44S (p.Leu44Ser) in CASP8 (Caspase-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L44S (p.Leu44Ser) variant details
- p.Leu44Ser
- gnomAD 2-201266617-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available