R6L (p.Arg6Leu) variant of CASP9 (Caspase-9)
R6L (p.Arg6Leu) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R6L (p.Arg6Leu) variant details
- p.Arg6Leu
- TOPMed rs1557559529
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.36
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available