G385R (p.Gly385Arg) variant of GCK (Hexokinase-4)
G385R (p.Gly385Arg) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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.
G385R (p.Gly385Arg) variant details
- p.Gly385Arg
- rs193922267
- ClinGen CA367398717
- ClinVar RCV002958450
- ClinVar RCV005862540
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.96
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Monogenic diabetes)
- EBI: Likely pathogenic (in MODY2)
- UniProt: Likely pathogenic (in MODY2)
- Population evidence available
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)