V1293I (p.Val1293Ile) variant of SCN4A (Nav1.4)
V1293I (p.Val1293Ile) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
V1293I (p.Val1293Ile) variant details
- p.Val1293Ile
- rs121908551
- ClinGen CA117846
- NCI-TCGA Cosmic COSV7112
- ClinVar RCV000006272
- Pathogenic
- Skeletal muscle channelopathy; not provided; Paramyotonia congenita of Von Eulen
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.86
- AlphaMissense 0.54
- MetaLR 0.93
- MetaSVM 1.10
- CADD 23.70
- PolyPhen-2 0.77
- ClinVar: Pathogenic (Skeletal muscle channelopathy; not provided; Paramyotonia congen)
- EBI: Pathogenic (in PMC)
- UniProt: Pathogenic (in PMC)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile). (PMID 8580427)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)