R52Q (p.Arg52Gln) variant of CASP9 (Caspase-9)
R52Q (p.Arg52Gln) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R52Q (p.Arg52Gln) variant details
- p.Arg52Gln
- TOPMed rs1284279588
- gnomAD rs1284279588
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.26
- CADD 24.70
- PolyPhen-2 0.93
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available