G80S (p.Gly80Ser) variant of GCK (Hexokinase-4)
G80S (p.Gly80Ser) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
G80S (p.Gly80Ser) variant details
- p.Gly80Ser
- rs1554335761
- ClinGen CA367403023
- ClinVar RCV000519805
- UniProt VAR 003695
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.42
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Structural context available
- Cited in: Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset… (PMID 10694920)
- Cited in: Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte… (PMID 10588527)