A32E (p.Ala32Glu) variant of SCN4A (Nav1.4)
A32E (p.Ala32Glu) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Paramyotonia congenita of Von Eulenburg; Potassium-aggravated myotonia; Hypokale. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A32E (p.Ala32Glu) variant details
- p.Ala32Glu
- rs765525226
- ClinGen CA400640484
- ClinVar RCV001066759
- ClinVar RCV001128322
- Uncertain significance
- Paramyotonia congenita of Von Eulenburg; Potassium-aggravated myotonia; Hypokale
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.30
- CADD 9.78
- PolyPhen-2 0.14
- SIFT 0.04
- ClinVar: Uncertain significance (Paramyotonia congenita of Von Eulenburg; Potassium-aggravated my)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)