R3T (p.Arg3Thr) variant of SCN4A (Nav1.4)
R3T (p.Arg3Thr) 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; Congenital myop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R3T (p.Arg3Thr) variant details
- p.Arg3Thr
- rs764134362
- ClinGen CA8710309
- ClinVar RCV000654666
- ClinVar RCV000680093
- Uncertain significance
- Potassium-aggravated myotonia; Congenital myopathy 22A, classic; Congenital myop
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.20
- CADD 6.28
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (Potassium-aggravated myotonia; Congenital myopathy 22A, classic;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0041)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)