R6W (p.Arg6Trp) variant of CASP9 (Caspase-9)
R6W (p.Arg6Trp) 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 0.54 / 1. The record also includes population frequency data and structural context.
R6W (p.Arg6Trp) variant details
- p.Arg6Trp
- rs1007329678
- ClinGen CA18250989
- ClinVar RCV004124350
- TOPMed rs1007329678
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.43
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available