D73E (p.Asp73Glu) variant of GCK (Hexokinase-4)
D73E (p.Asp73Glu) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of GCK-related disorder. The record also includes structural context.
D73E (p.Asp73Glu) variant details
- p.Asp73Glu
- rs2096281841
- ClinGen CA367403096
- ClinVar RCV003394466
- Uncertain significance
- GCK-related disorder
- Missense
- ClinVar: Uncertain significance (GCK-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available