D79H (p.Asp79His) variant of CASP9 (Caspase-9)
D79H (p.Asp79His) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
D79H (p.Asp79His) variant details
- p.Asp79His
- ExAC rs745486934
- TOPMed rs745486934
- gnomAD rs745486934
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.36
- CADD 26.20
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available