R90L (p.Arg90Leu) variant of CASP9 (Caspase-9)
R90L (p.Arg90Leu) in CASP9 (Caspase-9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R90L (p.Arg90Leu) variant details
- p.Arg90Leu
- ESP rs150928739
- ExAC rs150928739
- TOPMed rs150928739
- gnomAD rs150928739
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.04
- CADD 7.29
- PolyPhen-2 0.03
- SIFT 0.22
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available