G175R (p.Gly175Arg) variant of GCK (Hexokinase-4)
G175R (p.Gly175Arg) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G175R (p.Gly175Arg) variant details
- p.Gly175Arg
- rs587780344
- ClinGen CA367401686
- ClinVar RCV003883459
- ClinVar RCV005422450
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.96
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus. (PMID 8433729)
- Cited in: Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte… (PMID 10588527)