R41W (p.Arg41Trp) variant of SCN4A (Nav1.4)
R41W (p.Arg41Trp) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hyperkalemic periodic paralysis; Paramyotonia congenita of Von Eul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R41W (p.Arg41Trp) variant details
- p.Arg41Trp
- rs558855276
- ClinGen CA8710278
- ClinVar RCV001059609
- ClinVar RCV002482043
- Uncertain significance
- not provided; Hyperkalemic periodic paralysis; Paramyotonia congenita of Von Eul
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.46
- CADD 24.10
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Hyperkalemic periodic paralysis; Paramyotonia cong)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)