S26Y (p.Ser26Tyr) variant of CASP8 (Caspase-8)
S26Y (p.Ser26Tyr) in CASP8 (Caspase-8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S26Y (p.Ser26Tyr) variant details
- p.Ser26Tyr
- rs749203863
- gnomAD 2-201258346-TCGGA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.23
- CADD 21.10
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available