R52Q (p.Arg52Gln) variant of SCN4A (Nav1.4)
R52Q (p.Arg52Gln) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hyperkalemic periodic paralysis; Hypokalemic periodic paralysis, t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R52Q (p.Arg52Gln) variant details
- p.Arg52Gln
- rs1240011068
- ClinGen CA400640358
- ClinVar RCV001241953
- ClinVar RCV001773547
- Uncertain significance
- not provided; Hyperkalemic periodic paralysis; Hypokalemic periodic paralysis, t
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.15
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Uncertain significance (not provided; Hyperkalemic periodic paralysis; Hypokalemic perio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)