C16S (p.Cys16Ser) variant of SCN4A (Nav1.4)
C16S (p.Cys16Ser) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hyperkalemic periodic paralysis; Potassium-aggravated myotonia; Hypokalemic peri. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
C16S (p.Cys16Ser) variant details
- p.Cys16Ser
- rs773541890
- ClinGen CA8710304
- ClinVar RCV000695117
- ClinVar RCV002493197
- Conflicting interpretations
- Hyperkalemic periodic paralysis; Potassium-aggravated myotonia; Hypokalemic peri
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.20
- CADD 7.52
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Hyperkalemic periodic paralysis; Potassium-aggravated myotonia;)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.0014)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)