H50Y (p.His50Tyr) variant of GCK (Hexokinase-4)
H50Y (p.His50Tyr) 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 Maturity-onset diabetes of the young type 2; Maturity-onset diabetes of the youn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
H50Y (p.His50Tyr) variant details
- p.His50Tyr
- rs1562719705
- ClinGen CA367403394
- ClinVar RCV000778070
- ClinVar RCV001816832
- Pathogenic/Likely pathogenic
- Maturity-onset diabetes of the young type 2; Maturity-onset diabetes of the youn
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- AlphaMissense 0.38
- MetaLR 0.95
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.75
- ClinVar: Pathogenic/Likely pathogenic (Maturity-onset diabetes of the young type 2; Maturity-onset diab)
- EBI: Pathogenic (in PNDM1)
- UniProt: Pathogenic (in PNDM1)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)