A37T (p.Ala37Thr) variant of SCN4A (Nav1.4)
A37T (p.Ala37Thr) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Potassium-aggravated myotonia; Congenital myopathy 22A, classic; Hyperkalemic pe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A37T (p.Ala37Thr) variant details
- p.Ala37Thr
- rs761255954
- ClinGen CA8710282
- NCI-TCGA Cosmic COSV1014
- ClinVar RCV002306247
- Uncertain significance
- Potassium-aggravated myotonia; Congenital myopathy 22A, classic; Hyperkalemic pe
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.53
- CADD 18.30
- PolyPhen-2 0.14
- SIFT 0.11
- ClinVar: Uncertain significance (Potassium-aggravated myotonia; Congenital myopathy 22A, classic;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00033)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)