R1454W (p.Arg1454Trp) variant of SCN4A (Nav1.4)
R1454W (p.Arg1454Trp) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital myasthenic syndrome 16; Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R1454W (p.Arg1454Trp) variant details
- p.Arg1454Trp
- rs879253789
- ClinGen CA10584065
- ClinVar RCV000235032
- ClinVar RCV001056500
- Likely pathogenic
- Congenital myasthenic syndrome 16; Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.82
- CADD 23.10
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital myasthenic syndrome 16; Hyperkalemic periodic paralys)
- EBI: Pathogenic (in CMS16 and CMYO22A)
- UniProt: Pathogenic (in CMS16 and CMYO22A)
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available
- Cited in: A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis. (PMID 26659129)
- Cited in: Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype. (PMID 36090556)