G115E (p.Gly115Glu) variant of SLC37A4 (O43826)
G115E (p.Gly115Glu) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glucose-6-phosphate transport defect. The record also includes published literature and structural context.
G115E (p.Gly115Glu) variant details
- p.Gly115Glu
- rs2497032074
- ClinGen CA382904674
- ClinVar RCV003444046
- Likely pathogenic
- Glucose-6-phosphate transport defect
- Missense
- ClinVar: Likely pathogenic (Glucose-6-phosphate transport defect)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Glycogen Storage Disease Type I. (PMID 20301489)
- Cited in: Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical… (PMID 25356975)