R1463S (p.Arg1463Ser) variant of SCN4A (Nav1.4)
R1463S (p.Arg1463Ser) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyperkalemic periodic paralysis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R1463S (p.Arg1463Ser) variant details
- p.Arg1463Ser
- rs774453167
- ClinGen CA8708976
- ClinVar RCV000810571
- ClinVar RCV001568013
- Likely pathogenic
- Hyperkalemic periodic paralysis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.83
- CADD 25.30
- PolyPhen-2 0.70
- SIFT 0.00
- ClinVar: Likely pathogenic (Hyperkalemic periodic paralysis; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)