I239V (p.Ile239Val) variant of SCN4A (Nav1.4)
I239V (p.Ile239Val) 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 0.78 / 1. The record also includes published literature and structural context.
I239V (p.Ile239Val) variant details
- p.Ile239Val
- rs1909519361
- ClinGen CA400637904
- ClinVar RCV001056914
- Ensembl rs1909519361
- Likely pathogenic
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- MutPred 0.78
- ClinVar: Likely pathogenic (Hyperkalemic periodic paralysis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)