A41E (p.Ala41Glu) variant of CASP8 (Caspase-8)
A41E (p.Ala41Glu) in CASP8 (Caspase-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A41E (p.Ala41Glu) variant details
- p.Ala41Glu
- rs373349998
- gnomAD 2-201258380-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- CADD 13.80
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available