R43C (p.Arg43Cys) variant of GCK (Hexokinase-4)
R43C (p.Arg43Cys) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R43C (p.Arg43Cys) variant details
- p.Arg43Cys
- rs1486280029
- ClinGen CA367403451
- NCI-TCGA Cosmic COSV6175
- cosmic curated COSV61753
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.92
- AlphaMissense 0.55
- MetaLR 0.94
- MetaSVM 1.06
- CADD 26.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in PNDM1)
- UniProt: Pathogenic (in PNDM1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated… (PMID 25015100)
- Cited in: Neonatal diabetes mellitus due to complete glucokinase deficiency. (PMID 11372010)