I588V (p.Ile588Val) variant of SCN4A (Nav1.4)
I588V (p.Ile588Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
I588V (p.Ile588Val) variant details
- p.Ile588Val
- rs2144798704
- ClinGen CA400633106
- ClinVar RCV001976264
- Ensembl rs2144798704
- Likely pathogenic
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- AlphaMissense 0.90
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 0.72
- SIFT 0.00
- EVE 0.38
- ClinVar: Likely pathogenic (Hyperkalemic periodic paralysis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)