G246R (p.Gly246Arg) variant of GCK (Hexokinase-4)
G246R (p.Gly246Arg) 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.
G246R (p.Gly246Arg) variant details
- p.Gly246Arg
- rs2096275721
- ClinGen CA367400665
- ClinVar RCV001289443
- ClinVar RCV002463807
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.91
- CADD 24.50
- PolyPhen-2 0.03
- SIFT 0.04
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)