R51Q (p.Arg51Gln) variant of CASP9 (Caspase-9)
R51Q (p.Arg51Gln) in CASP9 (Caspase-9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R51Q (p.Arg51Gln) variant details
- p.Arg51Gln
- ExAC rs755995677
- TOPMed rs755995677
- gnomAD rs755995677
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.21
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available