R447G (p.Arg447Gly) variant of GCK (Hexokinase-4)
R447G (p.Arg447Gly) 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; Maturity-onset diabetes of t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
R447G (p.Arg447Gly) variant details
- p.Arg447Gly
- rs193922281
- ClinGen CA213756
- ClinVar RCV000029861
- ClinVar RCV001288979
- Pathogenic/Likely pathogenic
- Maturity-onset diabetes of the young; not provided; Maturity-onset diabetes of t
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- AlphaMissense 0.86
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.42
- ClinVar: Pathogenic/Likely pathogenic (Maturity-onset diabetes of the young; not provided; Maturity-ons)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)