C129Y (p.Cys129Tyr) variant of GCK (Hexokinase-4)
C129Y (p.Cys129Tyr) 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; Maturity-onset diabetes of the young type 2. 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.
C129Y (p.Cys129Tyr) variant details
- p.Cys129Tyr
- rs2128822108
- ClinGen CA367402156
- ClinVar RCV001580191
- ClinVar RCV003120636
- Likely pathogenic
- not provided; Maturity-onset diabetes of the young type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.97
- AlphaMissense 0.95
- MetaLR 0.97
- MetaSVM 1.10
- CADD 25.80
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (not provided; Maturity-onset diabetes of the young type 2)
- 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: Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the… (PMID 16965331)
- Cited in: Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte… (PMID 10588527)