N440K (p.Asn440Lys) variant of SCN4A (Nav1.4)
N440K (p.Asn440Lys) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyperkalemic periodic paralysis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
N440K (p.Asn440Lys) variant details
- p.Asn440Lys
- rs864622785
- ClinGen CA351017
- ClinVar RCV000207008
- Ensembl rs864622785
- Pathogenic
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- MutPred 0.88
- ClinVar: Pathogenic (Hyperkalemic periodic paralysis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)