I692M (p.Ile692Met) variant of SCN4A (Nav1.4)
I692M (p.Ile692Met) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
I692M (p.Ile692Met) variant details
- p.Ile692Met
- rs1224997537
- ClinGen CA400631237
- ClinVar RCV001225646
- gnomAD rs1224997537
- Pathogenic/Likely pathogenic
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 0.95
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic/Likely pathogenic (Hyperkalemic periodic paralysis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)