R1460Q (p.Arg1460Gln) variant of SCN4A (Nav1.4)
R1460Q (p.Arg1460Gln) 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 Potassium-aggravated myotonia; Hypokalemic periodic paralysis, type 2; Congenita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R1460Q (p.Arg1460Gln) variant details
- p.Arg1460Gln
- rs1210934866
- ClinGen CA400616132
- ClinVar RCV000782203
- ClinVar RCV005029439
- Pathogenic/Likely pathogenic
- Potassium-aggravated myotonia; Hypokalemic periodic paralysis, type 2; Congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.95
- CADD 23.60
- PolyPhen-2 0.50
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Potassium-aggravated myotonia; Hypokalemic periodic paralysis, t)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)