T592I (p.Thr592Ile) variant of SCN4A (Nav1.4)
T592I (p.Thr592Ile) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
T592I (p.Thr592Ile) variant details
- p.Thr592Ile
- rs2144798676
- ClinGen CA400633021
- ClinVar RCV001932309
- Ensembl rs2144798676
- Pathogenic
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.32
- ClinVar: Pathogenic (Hyperkalemic periodic paralysis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)