R222Q (p.Arg222Gln) variant of SCN4A (Nav1.4)
R222Q (p.Arg222Gln) 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 not provided; Muscular channelopathy; Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R222Q (p.Arg222Gln) variant details
- p.Arg222Gln
- rs865887222
- ClinGen CA292972566
- ClinVar RCV001806518
- ClinVar RCV003772220
- Pathogenic/Likely pathogenic
- not provided; Muscular channelopathy; Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.96
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Muscular channelopathy; Hyperkalemic periodic para)
- EBI: Pathogenic (in HOKPP2)
- UniProt: Pathogenic (in HOKPP2)
- Population evidence available
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)