Y8S (p.Tyr8Ser) variant of CASP8 (Caspase-8)
Y8S (p.Tyr8Ser) in CASP8 (Caspase-8) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Y8S (p.Tyr8Ser) variant details
- p.Tyr8Ser
- TOPMed rs895052255
- gnomAD rs895052255
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- CADD 16.30
- PolyPhen-2 0.04
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available