W99R (p.Trp99Arg) variant of GCK (Hexokinase-4)
W99R (p.Trp99Arg) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.68 / 1. The record also includes published literature and structural context.
W99R (p.Trp99Arg) variant details
- p.Trp99Arg
- rs1554335751
- ClinGen CA367402811
- ClinVar RCV000518344
- ClinVar RCV003988850
- Conflicting interpretations
- not provided; Maturity-onset diabetes of the young type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- AlphaMissense 0.62
- MetaLR 0.92
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.71
- EVE 0.04
- ClinVar: Conflicting classifications of pathogenicity (not provided; Maturity-onset diabetes of the young type 2)
- EBI: Pathogenic (in HHF3)
- UniProt: Pathogenic (in HHF3)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)