V61L (p.Val61Leu) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
V61L (p.Val61Leu) in XIAP (E3 ubiquitin-protein ligase XIAP) 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 0.72 / 1. The record also includes population frequency data and structural context.
V61L (p.Val61Leu) variant details
- p.Val61Leu
- 1000Genomes rs2148089430
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.73
- CADD 25.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0067)
- Structural context available