E12D (p.Glu12Asp) variant of CASP8 (Caspase-8)
E12D (p.Glu12Asp) in CASP8 (Caspase-8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
E12D (p.Glu12Asp) variant details
- p.Glu12Asp
- gnomAD 2-201266520-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.659
- CADD 24.80
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available