R377H (p.Arg377His) variant of GCK (Hexokinase-4)
R377H (p.Arg377His) 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 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
R377H (p.Arg377His) variant details
- p.Arg377His
- rs193922264
- ClinGen CA213715
- ClinVar RCV000029839
- ClinVar RCV000518143
- Likely pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- REVEL 0.98
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.99
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Population evidence available
- Structural context available
- Cited in: Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. (PMID 17573900)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)