E1702K (p.Glu1702Lys) variant of SCN4A (Nav1.4)
E1702K (p.Glu1702Lys) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hyperkalemic periodic paralysis; Potassium-aggravated myotonia; Congenital myopa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
E1702K (p.Glu1702Lys) variant details
- p.Glu1702Lys
- rs1555600605
- ClinGen CA400614067
- ClinVar RCV000654653
- ClinVar RCV000713121
- Pathogenic/Likely pathogenic
- Hyperkalemic periodic paralysis; Potassium-aggravated myotonia; Congenital myopa
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- AlphaMissense 0.94
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic/Likely pathogenic (Hyperkalemic periodic paralysis; Potassium-aggravated myotonia;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)