I693S (p.Ile693Ser) variant of SCN4A (Nav1.4)
I693S (p.Ile693Ser) 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 0.91 / 1. The record also includes published literature and structural context.
I693S (p.Ile693Ser) variant details
- p.Ile693Ser
- rs80338956
- ClinGen CA400631226
- ClinVar RCV002625765
- Likely pathogenic
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.13
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- 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)