G261R (p.Gly261Arg) variant of GCK (Hexokinase-4)
G261R (p.Gly261Arg) 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.
G261R (p.Gly261Arg) variant details
- p.Gly261Arg
- rs104894008
- ClinGen CA126211
- ClinVar RCV000017515
- ClinVar RCV000426797
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.91
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in MODY2 and PNDM1)
- UniProt: Pathogenic (in MODY2 and PNDM1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Structure of the human glucokinase gene and identification of a missense mutation in a Japanese patient with… (PMID 1464666)
- Cited in: Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset… (PMID 1502186)