R90Q (p.Arg90Gln) variant of CASP9 (Caspase-9)
R90Q (p.Arg90Gln) in CASP9 (Caspase-9) is a missense change. Clinical records from ClinVar, EBI, 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 0.27 / 1. The record also includes population frequency data and structural context.
R90Q (p.Arg90Gln) variant details
- p.Arg90Gln
- rs150928739
- ClinGen CA614664
- cosmic curated COSV61601
- ClinVar RCV004296374
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.01
- CADD 2.98
- PolyPhen-2 0.01
- SIFT 0.68
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available