M251I (p.Met251Ile) variant of GCK (Hexokinase-4)
M251I (p.Met251Ile) 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; not provided. The record also includes published literature and structural context.
M251I (p.Met251Ile) variant details
- p.Met251Ile
- rs2484514406
- ClinGen CA367400629
- ClinVar RCV003555336
- ClinVar RCV004369265
- Pathogenic/Likely pathogenic
- Maturity-onset diabetes of the young; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Maturity-onset diabetes of the young; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)