K39M (p.Lys39Met) variant of CASP8 (Caspase-8)
K39M (p.Lys39Met) in CASP8 (Caspase-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
K39M (p.Lys39Met) variant details
- p.Lys39Met
- gnomAD 2-201266602-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- CADD 22.80
- PolyPhen-2 0.87
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available