R52W (p.Arg52Trp) variant of SCN4A (Nav1.4)
R52W (p.Arg52Trp) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hyperkalemic periodic paralysis; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R52W (p.Arg52Trp) variant details
- p.Arg52Trp
- rs201379704
- ClinGen CA8710269
- ClinVar RCV000607192
- ClinVar RCV000680091
- Conflicting interpretations
- not provided; Hyperkalemic periodic paralysis; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.34
- CADD 23.00
- PolyPhen-2 0.51
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hyperkalemic periodic paralysis; not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MSL population (allele frequency 0.05)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)