E12K (p.Glu12Lys) variant of CASP8 (Caspase-8)
E12K (p.Glu12Lys) in CASP8 (Caspase-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E12K (p.Glu12Lys) variant details
- p.Glu12Lys
- cosmic curated COSV99044
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- CADD 18.50
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available