Y21H (p.Tyr21His) variant of SLC37A4 (O43826)
Y21H (p.Tyr21His) 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; Congenital disorder of glycosylation, type. The record also includes structural context.
Y21H (p.Tyr21His) variant details
- p.Tyr21His
- TOPMed rs1943676569
- Uncertain significance
- Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type
- Missense
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect; Congenital disorder of gly)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available