R55Q (p.Arg55Gln) variant of SCN4A (Nav1.4)
R55Q (p.Arg55Gln) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyperkalemic periodic paralysis; Paramyotonia congenita of Von Eulenburg; Congen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R55Q (p.Arg55Gln) variant details
- p.Arg55Gln
- rs376523210
- ClinGen CA8710266
- ClinVar RCV001059084
- ClinVar RCV005029640
- Uncertain significance
- Hyperkalemic periodic paralysis; Paramyotonia congenita of Von Eulenburg; Congen
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.24
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Hyperkalemic periodic paralysis; Paramyotonia congenita of Von E)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)