I28V (p.Ile28Val) variant of SCN4A (Nav1.4)
I28V (p.Ile28Val) 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.
I28V (p.Ile28Val) variant details
- p.Ile28Val
- TOPMed rs886053250
- gnomAD rs886053250
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available