H50L (p.His50Leu) variant of GCK (Hexokinase-4)
H50L (p.His50Leu) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Maturity-onset diabetes of the young type 2. The record also includes published literature and structural context.
H50L (p.His50Leu) variant details
- p.His50Leu
- rs2484539875
- ClinGen CA367403390
- ClinVar RCV002289503
- Uncertain significance
- Maturity-onset diabetes of the young type 2
- Missense
- ClinVar: Uncertain significance (Maturity-onset diabetes of the young type 2)
- EBI: Variant of uncertain significance (in PNDM1)
- UniProt: Uncertain significance (in PNDM1)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)