A188T (p.Ala188Thr) variant of GCK (Hexokinase-4)
A188T (p.Ala188Thr) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A188T (p.Ala188Thr) variant details
- p.Ala188Thr
- rs751279776
- ClinGen CA4239604
- ClinVar RCV000992055
- ClinVar RCV001248939
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.93
- AlphaMissense 0.85
- MetaLR 0.98
- MetaSVM 1.09
- CADD 24.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations… (PMID 8325892)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)