I52L (p.Ile52Leu) variant of SLC37A4 (O43826)
I52L (p.Ile52Leu) 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.
I52L (p.Ile52Leu) variant details
- p.Ile52Leu
- Ensembl rs1565690903
- 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