E12V (p.Glu12Val) variant of CASP8 (Caspase-8)
E12V (p.Glu12Val) in CASP8 (Caspase-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
E12V (p.Glu12Val) variant details
- p.Glu12Val
- rs200010059
- gnomAD 2-201258236-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0842
- CADD 0.50
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available