R13G (p.Arg13Gly) variant of CASP9 (Caspase-9)
R13G (p.Arg13Gly) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R13G (p.Arg13Gly) variant details
- p.Arg13Gly
- TOPMed rs1281269636
- gnomAD rs1281269636
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.41
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available