S112C (p.Ser112Cys) variant of CASP3 (Caspase-3)
S112C (p.Ser112Cys) in CASP3 (Caspase-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S112C (p.Ser112Cys) variant details
- p.Ser112Cys
- TOPMed rs1742056552
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.38
- CADD 29.50
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available