F94L (p.Phe94Leu) variant of SLC37A4 (O43826)
F94L (p.Phe94Leu) 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.
F94L (p.Phe94Leu) variant details
- p.Phe94Leu
- Ensembl rs1555191568
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available