S26C (p.Ser26Cys) variant of CASP8 (Caspase-8)
S26C (p.Ser26Cys) 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.
S26C (p.Ser26Cys) variant details
- p.Ser26Cys
- gnomAD 2-201258339-AGGGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.241
- CADD 22.70
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available