P417L (p.Pro417Leu) variant of SLC2A2 (P11168)
P417L (p.Pro417Leu) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Fanconi-Bickel syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
P417L (p.Pro417Leu) variant details
- p.Pro417Leu
- rs121909744
- ClinGen CA019992
- ClinVar RCV000017475
- UniProt VAR 018652
- Pathogenic/Likely pathogenic
- Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.82
- AlphaMissense 0.70
- MetaLR 0.81
- MetaSVM 0.90
- CADD 29.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Fanconi-Bickel syndrome)
- EBI: Pathogenic (in FBS)
- UniProt: Pathogenic (in FBS)
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low… (PMID 10987651)
- Cited in: Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency. (PMID 8362811)