E12* (p.Glu12Ter) variant of CASP8 (Caspase-8)
E12* (p.Glu12Ter) in CASP8 (Caspase-8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E12* (p.Glu12Ter) variant details
- p.Glu12Ter
- rs868455063
- gnomAD 2-201258235-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.368
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available