R43H (p.Arg43His) variant of GCK (Hexokinase-4)
R43H (p.Arg43His) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R43H (p.Arg43His) variant details
- p.Arg43His
- rs764232985
- ClinGen CA4239718
- ClinVar RCV000445457
- ClinVar RCV000711763
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.82
- AlphaMissense 0.15
- MetaLR 0.95
- MetaSVM 1.11
- CADD 23.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization… (PMID 22611063)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)