I28L (p.Ile28Leu) variant of SCN4A (Nav1.4)
I28L (p.Ile28Leu) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital myasthenic syndrome 16; Paramyotonia congenita of Von Eulenburg; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
I28L (p.Ile28Leu) variant details
- p.Ile28Leu
- rs886053250
- ClinGen CA10646461
- ClinVar RCV000259544
- ClinVar RCV000293727
- Uncertain significance
- Congenital myasthenic syndrome 16; Paramyotonia congenita of Von Eulenburg; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.65
- CADD 23.80
- PolyPhen-2 0.09
- SIFT 0.04
- ClinVar: Uncertain significance (Congenital myasthenic syndrome 16; Paramyotonia congenita of Von)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)