G223S (p.Gly223Ser) variant of GCK (Hexokinase-4)
G223S (p.Gly223Ser) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Maturity-onset diabetes of the young type 2; Maturity-onset diabet. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G223S (p.Gly223Ser) variant details
- p.Gly223Ser
- rs1360415315
- ClinGen CA367401165
- ClinVar RCV000502130
- ClinVar RCV000517681
- Pathogenic
- not provided; Maturity-onset diabetes of the young type 2; Maturity-onset diabet
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.94
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Maturity-onset diabetes of the young type 2; Matur)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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: Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. (PMID 17573900)