H38Q (p.His38Gln) variant of CASP9 (Caspase-9)
H38Q (p.His38Gln) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
H38Q (p.His38Gln) variant details
- p.His38Gln
- ExAC rs764890956
- TOPMed rs764890956
- gnomAD rs764890956
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.03
- CADD 23.20
- PolyPhen-2 0.21
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available