L1433R (p.Leu1433Arg) variant of SCN4A (Nav1.4)
L1433R (p.Leu1433Arg) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of SCN4A-related non-dystrophic myotonia; Paramyotonia congenita of Von Eulenburg. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
L1433R (p.Leu1433Arg) variant details
- p.Leu1433Arg
- rs121908550
- ClinGen CA117844
- ClinVar RCV000006270
- ClinVar RCV002267603
- Pathogenic
- SCN4A-related non-dystrophic myotonia; Paramyotonia congenita of Von Eulenburg
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic (SCN4A-related non-dystrophic myotonia; Paramyotonia congenita of)
- EBI: Pathogenic (in PMC and HYPP)
- UniProt: Pathogenic (in PMC and HYPP)
- Structural context available
- Cited in: Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. (PMID 8388676)
- Cited in: A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes… (PMID 10369308)