R52W (p.Arg52Trp) variant of CASP9 (Caspase-9)
R52W (p.Arg52Trp) 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 0.34 / 1. The record also includes population frequency data and structural context.
R52W (p.Arg52Trp) variant details
- p.Arg52Trp
- rs201284755
- ClinGen CA614688
- cosmic curated COSV10042
- ClinVar RCV004312924
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.28
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available