G318R (p.Gly318Arg) variant of SLC2A2 (P11168)
G318R (p.Gly318Arg) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G318R (p.Gly318Arg) variant details
- p.Gly318Arg
- rs780067980
- ClinGen CA2702548
- ClinVar RCV000017479
- ExAC rs780067980
- Pathogenic
- Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.90
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Fanconi-Bickel syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel… (PMID 11810292)
- Cited in: Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome. (PMID 7632512)