R55L (p.Arg55Leu) variant of SCN4A (Nav1.4)
R55L (p.Arg55Leu) in SCN4A (Nav1.4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R55L (p.Arg55Leu) variant details
- p.Arg55Leu
- ESP rs376523210
- ExAC rs376523210
- TOPMed rs376523210
- gnomAD rs376523210
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available