V244G (p.Val244Gly) variant of GCK (Hexokinase-4)
V244G (p.Val244Gly) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Maturity-onset diabetes of the young type 2; Maturity-onset diabetes of the youn. The record also includes published literature and structural context.
V244G (p.Val244Gly) variant details
- p.Val244Gly
- rs2484514615
- ClinGen CA367400674
- ClinVar RCV002380111
- Pathogenic/Likely pathogenic
- Maturity-onset diabetes of the young type 2; Maturity-onset diabetes of the youn
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Maturity-onset diabetes of the young type 2; Maturity-onset diab)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)