G44S (p.Gly44Ser) variant of GCK (Hexokinase-4)
G44S (p.Gly44Ser) 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 Hyperinsulinemic hypoglycemia, familial, 3; Type 2 diabetes mellitus; Permanent. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G44S (p.Gly44Ser) variant details
- p.Gly44Ser
- rs267601516
- ClinGen CA157920006
- cosmic curated COSV61752
- ClinVar RCV000992045
- Pathogenic/Likely pathogenic
- Hyperinsulinemic hypoglycemia, familial, 3; Type 2 diabetes mellitus; Permanent
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.96
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hyperinsulinemic hypoglycemia, familial, 3; Type 2 diabetes mell)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)