R275G (p.Arg275Gly) variant of GCK (Hexokinase-4)
R275G (p.Arg275Gly) 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 0.77 / 1. The record also includes population frequency data and structural context.
R275G (p.Arg275Gly) variant details
- p.Arg275Gly
- rs556436603
- ClinGen CA367400479
- ClinVar RCV003445463
- ClinVar RCV003479524
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.79
- CADD 24.70
- PolyPhen-2 0.43
- SIFT 0.02
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available