R447Q (p.Arg447Gln) variant of GCK (Hexokinase-4)
R447Q (p.Arg447Gln) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hyperinsulinemic hypoglycemia, familial, 3; Maturity-onset diabete. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R447Q (p.Arg447Gln) variant details
- p.Arg447Gln
- rs1131691416
- ClinGen CA367396940
- cosmic curated COSV10730
- ClinVar RCV000494422
- Pathogenic/Likely pathogenic
- not provided; Hyperinsulinemic hypoglycemia, familial, 3; Maturity-onset diabete
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.75
- AlphaMissense 0.40
- MetaLR 0.95
- MetaSVM 1.09
- CADD 24.10
- PolyPhen-2 0.98
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hyperinsulinemic hypoglycemia, familial, 3; Maturi)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the… (PMID 16965331)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)