I1455T (p.Ile1455Thr) variant of SCN4A (Nav1.4)
I1455T (p.Ile1455Thr) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Paramyotonia congenita of Von Eulenburg; Hyperkalemic periodic paralysis; Congen. 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.
I1455T (p.Ile1455Thr) variant details
- p.Ile1455Thr
- rs377176361
- ClinGen CA292957326
- ClinVar RCV001200229
- ClinVar RCV001217902
- Pathogenic/Likely pathogenic
- Paramyotonia congenita of Von Eulenburg; Hyperkalemic periodic paralysis; Congen
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.91
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.09
- CADD 24.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Paramyotonia congenita of Von Eulenburg; Hyperkalemic periodic p)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)