R85W (p.Arg85Trp) variant of GCK (Hexokinase-4)
R85W (p.Arg85Trp) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Maturity-onset diabetes of the young; Maturity-onset diabetes of the young type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
R85W (p.Arg85Trp) variant details
- p.Arg85Trp
- rs193922290
- ClinGen CA213773
- ClinVar RCV000029873
- ClinVar RCV002465491
- Conflicting interpretations
- Maturity-onset diabetes of the young; Maturity-onset diabetes of the young type
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 0.94
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Conflicting classifications of pathogenicity (Maturity-onset diabetes of the young; Maturity-onset diabetes of)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)