P19S (p.Pro19Ser) variant of SCN4A (Nav1.4)
P19S (p.Pro19Ser) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital myasthenic syndrome 16; Paramyotonia congenita of Von Eulenburg; Pota. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P19S (p.Pro19Ser) variant details
- p.Pro19Ser
- rs772628295
- ClinGen CA400640555
- ClinVar RCV001757932
- ClinVar RCV002488519
- Uncertain significance
- Congenital myasthenic syndrome 16; Paramyotonia congenita of Von Eulenburg; Pota
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.53
- CADD 21.70
- PolyPhen-2 0.33
- SIFT 0.38
- ClinVar: Uncertain significance (Congenital myasthenic syndrome 16; Paramyotonia congenita of Von)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)