G20A (p.Gly20Ala) variant of SLC37A4 (O43826)
G20A (p.Gly20Ala) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glucose-6-phosphate transport defect. The record also includes structural context.
G20A (p.Gly20Ala) variant details
- p.Gly20Ala
- TOPMed rs193302881
- gnomAD rs193302881
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Structural context available