R222W (p.Arg222Trp) variant of SCN4A (Nav1.4)
R222W (p.Arg222Trp) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SCN4A-related disorder; Potassium-aggravated myotonia; Hypokalemic periodic para. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R222W (p.Arg222Trp) variant details
- p.Arg222Trp
- rs527236148
- ClinGen CA345718
- ClinVar RCV000132735
- ClinVar RCV000654671
- Pathogenic/Likely pathogenic
- SCN4A-related disorder; Potassium-aggravated myotonia; Hypokalemic periodic para
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.95
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (SCN4A-related disorder; Potassium-aggravated myotonia; Hypokalem)
- EBI: Pathogenic (in HOKPP2)
- UniProt: Pathogenic (in HOKPP2)
- Population evidence available
- Structural context available
- Cited in: Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. (PMID 19118277)
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)