W257R (p.Trp257Arg) variant of GCK (Hexokinase-4)
W257R (p.Trp257Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
W257R (p.Trp257Arg) variant details
- p.Trp257Arg
- rs1554335135
- ClinGen CA367400597
- ClinVar RCV000516870
- ClinVar RCV002463706
- Pathogenic/Likely pathogenic
- Maturity-onset diabetes of the young; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.944
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic/Likely pathogenic (Maturity-onset diabetes of the young; not provided)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Structural context available
- Cited in: Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations… (PMID 8325892)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)