V1293L (p.Val1293Leu) variant of SCN4A (Nav1.4)
V1293L (p.Val1293Leu) 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 0.84 / 1. The record also includes published literature and structural context.
V1293L (p.Val1293Leu) variant details
- p.Val1293Leu
- rs121908551
- ClinGen CA400617290
- ClinVar RCV003505432
- Likely pathogenic
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- AlphaMissense 0.54
- MetaLR 0.93
- MetaSVM 1.10
- PolyPhen-2 0.77
- SIFT 0.00
- EVE 0.84
- ClinVar: Likely pathogenic (Hyperkalemic periodic paralysis)
- EBI: Likely pathogenic (in PMC)
- UniProt: Likely pathogenic (in PMC)
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)