R1463L (p.Arg1463Leu) variant of SCN4A (Nav1.4)
R1463L (p.Arg1463Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R1463L (p.Arg1463Leu) variant details
- p.Arg1463Leu
- rs771340029
- ClinGen CA292957285
- ClinVar RCV000692303
- 1000Genomes rs771340029
- Likely pathogenic
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.83
- CADD 25.30
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Likely pathogenic (Hyperkalemic periodic paralysis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)