R1463H (p.Arg1463His) variant of SCN4A (Nav1.4)
R1463H (p.Arg1463His) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R1463H (p.Arg1463His) variant details
- p.Arg1463His
- rs771340029
- ClinGen CA8708975
- ClinVar RCV000795668
- 1000Genomes rs771340029
- Pathogenic
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.76
- CADD 25.60
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Pathogenic (Hyperkalemic periodic paralysis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)