D42H (p.Asp42His) variant of CASP9 (Caspase-9)
D42H (p.Asp42His) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
D42H (p.Asp42His) variant details
- p.Asp42His
- TOPMed rs1020768675
- gnomAD rs1020768675
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.23
- CADD 28.30
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available