P1158L (p.Pro1158Leu) variant of SCN4A (Nav1.4)
P1158L (p.Pro1158Leu) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyperkalemic periodic paralysis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
P1158L (p.Pro1158Leu) variant details
- p.Pro1158Leu
- rs1555601448
- ClinGen CA400618699
- ClinVar RCV000518217
- ClinVar RCV000545880
- Likely pathogenic
- Hyperkalemic periodic paralysis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Likely pathogenic (Hyperkalemic periodic paralysis; not provided)
- EBI: Likely pathogenic (in HOKPP2)
- UniProt: Likely pathogenic (in HOKPP2)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)