R1448C (p.Arg1448Cys) variant of SCN4A (Nav1.4)
R1448C (p.Arg1448Cys) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hypokalemic periodic paralysis, type 1; Hypokalemic periodic paral. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R1448C (p.Arg1448Cys) variant details
- p.Arg1448Cys
- rs121908544
- ClinGen CA117835
- ClinVar RCV000006258
- ClinVar RCV000206951
- Pathogenic
- not provided; Hypokalemic periodic paralysis, type 1; Hypokalemic periodic paral
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.95
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.08
- CADD 27.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Hypokalemic periodic paralysis, type 1; Hypokalemi)
- EBI: Pathogenic (in PMC)
- UniProt: Pathogenic (in PMC)
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. (PMID 1316765)
- Cited in: Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M. (PMID 15318338)