E49K (p.Glu49Lys) variant of SCN4A (Nav1.4)
E49K (p.Glu49Lys) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Hyperkalemic periodic paralysis; Hypokalemic periodic p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E49K (p.Glu49Lys) variant details
- p.Glu49Lys
- rs368011562
- ClinGen CA8710273
- ClinVar RCV001222694
- ClinVar RCV002286824
- Uncertain significance
- Inborn genetic diseases; Hyperkalemic periodic paralysis; Hypokalemic periodic p
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.45
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; Hyperkalemic periodic paralysis; Hypoka)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00021)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)