V1589M (p.Val1589Met) variant of SCN4A (Nav1.4)
V1589M (p.Val1589Met) 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; Paramyotonia congenita of Von Eulen. 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.
V1589M (p.Val1589Met) variant details
- p.Val1589Met
- rs121908548
- ClinGen CA117842
- ClinVar RCV000006267
- ClinVar RCV000006268
- Pathogenic
- Skeletal muscle channelopathy; not provided; Paramyotonia congenita of Von Eulen
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.90
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Skeletal muscle channelopathy; not provided; Paramyotonia congen)
- EBI: Pathogenic (in PMC)
- UniProt: Pathogenic (in PMC)
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Altered sodium channel behaviour causes myotonia in dominantly inherited myotonia congenita. (PMID 1668369)
- Cited in: What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed. (PMID 18166706)