A57S (p.Ala57Ser) variant of SGCA (Alpha-sarcoglycan)
A57S (p.Ala57Ser) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A57S (p.Ala57Ser) variant details
- p.Ala57Ser
- ExAC rs769778891
- gnomAD rs769778891
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available