S48Y (p.Ser48Tyr) variant of CASP9 (Caspase-9)
S48Y (p.Ser48Tyr) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S48Y (p.Ser48Tyr) variant details
- p.Ser48Tyr
- ExAC rs778541174
- TOPMed rs778541174
- gnomAD rs778541174
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.15
- CADD 24.50
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available