R392C (p.Arg392Cys) variant of GCK (Hexokinase-4)
R392C (p.Arg392Cys) 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.
R392C (p.Arg392Cys) variant details
- p.Arg392Cys
- rs1167124132
- ClinGen CA367398622
- NCI-TCGA Cosmic COSV9978
- cosmic curated COSV99789
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.91
- AlphaMissense 0.70
- MetaLR 0.94
- MetaSVM 1.08
- CADD 33.00
- PolyPhen-2 0.93
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- 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)