P1158S (p.Pro1158Ser) variant of SCN4A (Nav1.4)
P1158S (p.Pro1158Ser) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; not provided; Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
P1158S (p.Pro1158Ser) variant details
- p.Pro1158Ser
- rs121908555
- ClinGen CA253655
- ClinVar RCV000006280
- ClinVar RCV000713100
- Pathogenic
- Inborn genetic diseases; not provided; Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; Hyperkalemic periodic par)
- EBI: Pathogenic (in HOKPP2)
- UniProt: Pathogenic (in HOKPP2)
- Structural context available
- Cited in: Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis. (PMID 10851391)
- Cited in: Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis. (PMID 14557559)