R22L (p.Arg22Leu) variant of SCN4A (Nav1.4)
R22L (p.Arg22Leu) 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.
R22L (p.Arg22Leu) variant details
- p.Arg22Leu
- gnomAD rs1413223155
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available