G50E (p.Gly50Glu) variant of SLC37A4 (O43826)
G50E (p.Gly50Glu) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Glucose-6-phosphate transport defect; Phosphate transport defect; Congenital dis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G50E (p.Gly50Glu) variant details
- p.Gly50Glu
- rs193302877
- UniProt VAR 066394
- 1000Genomes rs193302877
- ExAC rs193302877
- Conflicting interpretations
- Glucose-6-phosphate transport defect; Phosphate transport defect; Congenital dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Glucose-6-phosphate transport defect; Phosphate transport defect)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available
- Cited in: A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early… (PMID 21629566)
- Cited in: Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. (PMID 10026167)