R13L (p.Arg13Leu) variant of CASP9 (Caspase-9)
R13L (p.Arg13Leu) in CASP9 (Caspase-9) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R13L (p.Arg13Leu) variant details
- p.Arg13Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.46
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available