P11L (p.Pro11Leu) variant of SCN4A (Nav1.4)
P11L (p.Pro11Leu) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Potassium-aggravated myotonia; Hypokalemic periodic paralysis, type 2; Hyperkale. The record also includes structural context.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- TOPMed rs1047701
- Uncertain significance
- Potassium-aggravated myotonia; Hypokalemic periodic paralysis, type 2; Hyperkale
- Missense
- ClinVar: Uncertain significance (Potassium-aggravated myotonia; Hypokalemic periodic paralysis, t)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available