V423E (p.Val423Glu) variant of SLC2A2 (P11168)
V423E (p.Val423Glu) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fanconi-Bickel syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
V423E (p.Val423Glu) variant details
- p.Val423Glu
- rs28928874
- ClinGen CA020003
- ClinVar RCV000017481
- UniProt VAR 018653
- Pathogenic
- Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- AlphaMissense 0.82
- MetaLR 0.81
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic (Fanconi-Bickel syndrome)
- EBI: Pathogenic (in FBS)
- UniProt: Pathogenic (in FBS)
- Structural context available
- Cited in: Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. (PMID 11044475)
- Cited in: A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low… (PMID 10987651)