L389P (p.Leu389Pro) variant of SLC2A2 (P11168)
L389P (p.Leu389Pro) 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 0.59 / 1. The record also includes published literature and structural context.
L389P (p.Leu389Pro) variant details
- p.Leu389Pro
- rs121909747
- ClinGen CA019988
- ClinVar RCV000017484
- UniProt VAR 018651
- Pathogenic
- Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- AlphaMissense 0.34
- MetaLR 0.68
- MetaSVM 0.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- 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)