R7Q (p.Arg7Gln) variant of CASP9 (Caspase-9)
R7Q (p.Arg7Gln) 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 0.04 / 1. The record also includes population frequency data and structural context.
R7Q (p.Arg7Gln) variant details
- p.Arg7Gln
- ExAC rs779201404
- TOPMed rs779201404
- gnomAD rs779201404
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0408
- REVEL 0.01
- CADD 1.08
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available