T228M (p.Thr228Met) variant of GCK (Hexokinase-4)
T228M (p.Thr228Met) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
T228M (p.Thr228Met) variant details
- p.Thr228Met
- rs80356655
- ClinGen CA260620
- ClinVar RCV000020167
- ClinVar RCV000498792
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.97
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.00
- CADD 26.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in MODY2 and PNDM1)
- UniProt: Pathogenic (in MODY2 and PNDM1)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Neonatal diabetes mellitus due to complete glucokinase deficiency. (PMID 11372010)
- Cited in: Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset… (PMID 1502186)