S16V (p.Ser16Val) variant of CASP8 (Caspase-8)
S16V (p.Ser16Val) in CASP8 (Caspase-8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S16V (p.Ser16Val) variant details
- p.Ser16Val
- gnomAD 2-201258265-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.352
- CADD 21.80
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available