E49D (p.Glu49Asp) variant of SCN4A (Nav1.4)
E49D (p.Glu49Asp) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyperkalemic periodic paralysis; Paramyotonia congenita of Von Eulenburg; Potass. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E49D (p.Glu49Asp) variant details
- p.Glu49Asp
- rs781147290
- ClinGen CA8710272
- ClinVar RCV001212690
- ClinVar RCV005029771
- Uncertain significance
- Hyperkalemic periodic paralysis; Paramyotonia congenita of Von Eulenburg; Potass
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.28
- CADD 3.30
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (Hyperkalemic periodic paralysis; Paramyotonia congenita of Von E)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)