M43L (p.Met43Leu) variant of CASP8 (Caspase-8)
M43L (p.Met43Leu) in CASP8 (Caspase-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
M43L (p.Met43Leu) variant details
- p.Met43Leu
- gnomAD 2-201266613-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- CADD 15.00
- PolyPhen-2 0.10
- SIFT 0.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available