R31W (p.Arg31Trp) variant of SCN4A (Nav1.4)
R31W (p.Arg31Trp) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R31W (p.Arg31Trp) variant details
- p.Arg31Trp
- rs756059775
- ClinGen CA8710291
- ClinVar RCV001763055
- ClinVar RCV002477931
- Uncertain significance
- Congenital myasthenic syndrome 16; Paramyotonia congenita of Von Eulenburg; Pota
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.68
- CADD 28.50
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Congenital myasthenic syndrome 16; Paramyotonia congenita of Von)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00083)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)