V5G (p.Val5Gly) variant of CBL (E3 ubiquitin-protein ligase CBL)
V5G (p.Val5Gly) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes experimental measurements and structural context.
V5G (p.Val5Gly) variant details
- p.Val5Gly
- TOPMed rs1453555739
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.361