A11G (p.Ala11Gly) variant of CBL (E3 ubiquitin-protein ligase CBL)
A11G (p.Ala11Gly) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes experimental measurements and structural context.
A11G (p.Ala11Gly) variant details
- p.Ala11Gly
- rs1302101624
- ClinGen CA382975709
- ClinVar RCV002454680
- TOPMed rs1302101624
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- AlphaMissense 0.06
- MetaLR 0.18
- MetaSVM -0.95
- PolyPhen-2 0.03
- SIFT 0.23
- MutPred 0.16
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.02