R1448H (p.Arg1448His) variant of SCN4A (Nav1.4)
R1448H (p.Arg1448His) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Skeletal muscle channelopathy; not provided; Potassium-aggravated myotonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R1448H (p.Arg1448His) variant details
- p.Arg1448His
- rs121908545
- ClinGen CA117836
- ClinVar RCV000006259
- ClinVar RCV000206992
- Pathogenic
- Skeletal muscle channelopathy; not provided; Potassium-aggravated myotonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- REVEL 0.98
- AlphaMissense 0.94
- MetaLR 0.97
- MetaSVM 1.05
- CADD 26.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Skeletal muscle channelopathy; not provided; Potassium-aggravate)
- EBI: Pathogenic (in PMC)
- UniProt: Pathogenic (in PMC)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. (PMID 1316765)
- Cited in: What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed. (PMID 18166706)