N63S (p.Asn63Ser) variant of SCN4A (Nav1.4)
N63S (p.Asn63Ser) 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 myopathy 22A, classic; Hyperkalemic periodic paralysis; Potassium-agg. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
N63S (p.Asn63Ser) variant details
- p.Asn63Ser
- rs941497920
- ClinGen CA292972888
- ClinVar RCV003136504
- ClinVar RCV005021821
- Uncertain significance
- Congenital myopathy 22A, classic; Hyperkalemic periodic paralysis; Potassium-agg
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.24
- CADD 6.40
- PolyPhen-2 0.01
- SIFT 0.83
- ClinVar: Uncertain significance (Congenital myopathy 22A, classic; Hyperkalemic periodic paralysi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.1e-05)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)