V91L (p.Val91Leu) variant of GCK (Hexokinase-4)
V91L (p.Val91Leu) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes published literature and structural context.
V91L (p.Val91Leu) variant details
- p.Val91Leu
- rs2484535683
- ClinVar RCV000017528
- UniProt VAR 078244
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in HHF3)
- UniProt: Pathogenic (in HHF3)
- Structural context available
- Cited in: Large islets, beta-cell proliferation, and a glucokinase mutation. (PMID 20375417)
- Cited in: Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its… (PMID 28247534)