F93L (p.Phe93Leu) variant of SCN4A (Nav1.4)
F93L (p.Phe93Leu) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hyperkalemic periodic paralysis. The record also includes variant effect predictions, published literature, and structural context.
F93L (p.Phe93Leu) variant details
- p.Phe93Leu
- rs374574341
- ClinGen CA400640083
- ClinVar RCV001754999
- ClinVar RCV006467876
- Uncertain significance
- not provided; Hyperkalemic periodic paralysis
- Missense
- MutPred 0.44
- ClinVar: Uncertain significance (not provided; Hyperkalemic periodic paralysis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)