A259T (p.Ala259Thr) variant of GCK (Hexokinase-4)
A259T (p.Ala259Thr) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A259T (p.Ala259Thr) variant details
- p.Ala259Thr
- rs1375656631
- ClinGen CA367400584
- NCI-TCGA Cosmic COSV6078
- cosmic curated COSV60787
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.90
- AlphaMissense 0.68
- MetaLR 0.91
- MetaSVM 1.07
- CADD 24.40
- PolyPhen-2 0.90
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Mutations in the glucokinase gene of the fetus result in reduced birth weight. (PMID 9662401)
- Cited in: Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte… (PMID 10588527)