G53C (p.Gly53Cys) variant of AQP2 (Aquaporin-2)
G53C (p.Gly53Cys) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Diabetes insipidus, nephrogenic, autosomal. The record also includes structural context.
G53C (p.Gly53Cys) variant details
- p.Gly53Cys
- TOPMed rs1947324535
- Uncertain significance
- Diabetes insipidus, nephrogenic, autosomal
- Missense
- ClinVar: Uncertain significance (Diabetes insipidus, nephrogenic, autosomal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available