G57D (p.Gly57Asp) variant of SLC12A3 (P55017)
G57D (p.Gly57Asp) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
G57D (p.Gly57Asp) variant details
- p.Gly57Asp
- TOPMed rs1964328427
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available