R397L (p.Arg397Leu) variant of GCK (Hexokinase-4)
R397L (p.Arg397Leu) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R397L (p.Arg397Leu) variant details
- p.Arg397Leu
- rs193929375
- ClinGen CA341587
- ClinVar RCV000020166
- ClinVar RCV000518294
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.93
- CADD 25.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in PNDM1)
- UniProt: Pathogenic (in PNDM1)
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)