A1156S (p.Ala1156Ser) variant of SCN4A (Nav1.4)
A1156S (p.Ala1156Ser) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of SCN4A-related disorder; Inborn genetic diseases; Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A1156S (p.Ala1156Ser) variant details
- p.Ala1156Ser
- rs80338958
- ClinGen CA8709250
- ClinVar RCV000517468
- ClinVar RCV003766932
- Conflicting interpretations
- SCN4A-related disorder; Inborn genetic diseases; Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.84
- MetaLR 0.94
- MetaSVM 1.08
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Skeletal muscle channelopathy; Paramyotonia congenita of Von Eul)
- EBI: Pathogenic (in PMC, MYOSCN4A and HYPP)
- UniProt: Pathogenic (in PMC, MYOSCN4A and HYPP)
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)