H38R (p.His38Arg) variant of CASP9 (Caspase-9)
H38R (p.His38Arg) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
H38R (p.His38Arg) variant details
- p.His38Arg
- gnomAD rs1169017356
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.01
- CADD 23.30
- PolyPhen-2 0.21
- SIFT 0.02
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available