R18C (p.Arg18Cys) variant of SCN4A (Nav1.4)
R18C (p.Arg18Cys) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R18C (p.Arg18Cys) variant details
- p.Arg18Cys
- rs78592515
- ClinGen CA8710301
- ClinVar RCV001123692
- ClinVar RCV001123693
- Conflicting interpretations
- Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.79
- CADD 24.70
- PolyPhen-2 0.29
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic pa)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:JPT population (allele frequency 0.044)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)