R22Q (p.Arg22Gln) variant of SCN4A (Nav1.4)
R22Q (p.Arg22Gln) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R22Q (p.Arg22Gln) variant details
- p.Arg22Gln
- rs1413223155
- ClinGen CA400640538
- ClinVar RCV002012255
- gnomAD rs1413223155
- Uncertain significance
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.35
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (Hyperkalemic periodic paralysis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)