G72R (p.Gly72Arg) variant of GCK (Hexokinase-4)
G72R (p.Gly72Arg) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G72R (p.Gly72Arg) variant details
- p.Gly72Arg
- rs193922289
- ClinGen CA213771
- ClinVar RCV000029872
- ClinVar RCV000255585
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.99
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Maturity-onset diabetes of the young type 2; not provided)
- EBI: Pathogenic (in MODY2 and PNDM1)
- UniProt: Pathogenic (in MODY2 and PNDM1)
- Most common in the African/African-American population (allele frequency 3e-05)
- 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: Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated… (PMID 25015100)