R22G (p.Arg22Gly) variant of SCN4A (Nav1.4)
R22G (p.Arg22Gly) 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. The record also includes variant effect predictions, published literature, and structural context.
R22G (p.Arg22Gly) variant details
- p.Arg22Gly
- rs865873054
- ClinGen CA400640539
- ClinVar RCV003505585
- Uncertain significance
- Hyperkalemic periodic paralysis
- Missense
- MutPred 0.51
- ClinVar: Uncertain significance (Hyperkalemic periodic paralysis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)