A20C (p.Ala20Cys) variant of CASP8 (Caspase-8)
A20C (p.Ala20Cys) in CASP8 (Caspase-8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A20C (p.Ala20Cys) variant details
- p.Ala20Cys
- gnomAD 2-201258311-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 13.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available