R1463C (p.Arg1463Cys) variant of SCN4A (Nav1.4)
R1463C (p.Arg1463Cys) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R1463C (p.Arg1463Cys) variant details
- p.Arg1463Cys
- rs774453167
- ClinGen CA8708977
- NCI-TCGA Cosmic COSV7112
- ClinVar RCV002636380
- Uncertain significance
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.89
- CADD 27.90
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Hyperkalemic periodic paralysis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)