Q73K (p.Gln73Lys) variant of SLC37A4 (O43826)
Q73K (p.Gln73Lys) 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.
Q73K (p.Gln73Lys) variant details
- p.Gln73Lys
- Ensembl rs1555191604
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available