R49L (p.Arg49Leu) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
R49L (p.Arg49Leu) in XIAP (E3 ubiquitin-protein ligase XIAP) 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 0.62 / 1. The record also includes population frequency data and structural context.
R49L (p.Arg49Leu) variant details
- p.Arg49Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.56
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available