G83E (p.Gly83Glu) variant of SLC37A4 (O43826)
G83E (p.Gly83Glu) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Glucose-6-phosphate transport defect. The record also includes structural context.
G83E (p.Gly83Glu) variant details
- p.Gly83Glu
- Ensembl rs2134640168
- Pathogenic/Likely pathogenic
- Glucose-6-phosphate transport defect
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Glucose-6-phosphate transport defect)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available