N1366K (p.Asn1366Lys) variant of SCN4A (Nav1.4)
N1366K (p.Asn1366Lys) 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 0.94 / 1. The record also includes published literature and structural context.
N1366K (p.Asn1366Lys) variant details
- p.Asn1366Lys
- rs1908594231
- ClinGen CA400616745
- ClinVar RCV002033630
- Ensembl rs1908594231
- Likely pathogenic
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.944
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Likely pathogenic (Hyperkalemic periodic paralysis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)