R22W (p.Arg22Trp) variant of SCN4A (Nav1.4)
R22W (p.Arg22Trp) 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; Hypo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R22W (p.Arg22Trp) variant details
- p.Arg22Trp
- rs865873054
- ClinGen CA292972915
- ClinVar RCV002047926
- ClinVar RCV002498024
- Uncertain significance
- Congenital myasthenic syndrome 16; Paramyotonia congenita of Von Eulenburg; Hypo
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.49
- CADD 24.90
- PolyPhen-2 0.69
- SIFT 0.07
- ClinVar: Uncertain significance (Congenital myasthenic syndrome 16; Paramyotonia congenita of Von)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)