R18S (p.Arg18Ser) variant of SCN4A (Nav1.4)
R18S (p.Arg18Ser) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypokalemic periodic paralysis, type 2; Paramyotonia congenita of Von Eulenburg. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R18S (p.Arg18Ser) variant details
- p.Arg18Ser
- rs78592515
- ClinGen CA8710300
- ClinVar RCV000499480
- ClinVar RCV000545405
- Conflicting interpretations
- Hypokalemic periodic paralysis, type 2; Paramyotonia congenita of Von Eulenburg
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.67
- CADD 23.60
- PolyPhen-2 0.15
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Hypokalemic periodic paralysis, type 2; Paramyotonia congenita o)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)