A76P (p.Ala76Pro) variant of SLC37A4 (O43826)
A76P (p.Ala76Pro) 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.
A76P (p.Ala76Pro) variant details
- p.Ala76Pro
- TOPMed rs948802122
- gnomAD rs948802122
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available