M43K (p.Met43Lys) variant of CASP8 (Caspase-8)
M43K (p.Met43Lys) in CASP8 (Caspase-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
M43K (p.Met43Lys) variant details
- p.Met43Lys
- gnomAD 2-201258359-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- CADD 7.26
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available