Y55H (p.Tyr55His) variant of SLC5A2 (Sodium/glucose cotransporter 2)
Y55H (p.Tyr55His) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SLC5A2-related disorder. The record also includes structural context.
Y55H (p.Tyr55His) variant details
- p.Tyr55His
- rs2544880877
- ClinGen CA395751438
- ClinVar RCV003408473
- Uncertain significance
- SLC5A2-related disorder
- Missense
- ClinVar: Uncertain significance (SLC5A2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available