C47Y (p.Cys47Tyr) variant of CASP3 (Caspase-3)
C47Y (p.Cys47Tyr) in CASP3 (Caspase-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
C47Y (p.Cys47Tyr) variant details
- p.Cys47Tyr
- ExAC rs749226798
- TOPMed rs749226798
- gnomAD rs749226798
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.66
- CADD 26.70
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available