E51K (p.Glu51Lys) variant of SCN4A (Nav1.4)
E51K (p.Glu51Lys) 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; Congenital myopathy 22A, classic; Congenital myop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E51K (p.Glu51Lys) variant details
- p.Glu51Lys
- rs751390409
- ClinGen CA8710270
- ClinVar RCV000654645
- ClinVar RCV001169853
- Uncertain significance
- Potassium-aggravated myotonia; Congenital myopathy 22A, classic; Congenital myop
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.26
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.79
- ClinVar: Uncertain significance (Potassium-aggravated myotonia; Congenital myopathy 22A, classic;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)