R303Q (p.Arg303Gln) variant of GCK (Hexokinase-4)
R303Q (p.Arg303Gln) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Maturity-onset diabetes of the young type 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R303Q (p.Arg303Gln) variant details
- p.Arg303Gln
- rs1312678560
- ClinGen CA367400053
- ClinVar RCV000499613
- ClinVar RCV002524187
- Likely pathogenic
- Maturity-onset diabetes of the young type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Maturity-onset diabetes of the young type 2; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)