R18L (p.Arg18Leu) variant of SCN4A (Nav1.4)
R18L (p.Arg18Leu) 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.
R18L (p.Arg18Leu) variant details
- p.Arg18Leu
- 1000Genomes rs557359808
- ExAC rs557359808
- TOPMed rs557359808
- gnomAD rs557359808
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available