Q270K (p.Gln270Lys) variant of SCN4A (Nav1.4)
Q270K (p.Gln270Lys) 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 0.81 / 1. The record also includes published literature and structural context.
Q270K (p.Gln270Lys) variant details
- p.Gln270Lys
- rs1597985462
- ClinGen CA400637663
- ClinVar RCV000813734
- UniProt VAR 054936
- Pathogenic
- Hyperkalemic periodic paralysis
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- MutPred 0.81
- ClinVar: Pathogenic (Hyperkalemic periodic paralysis)
- EBI: Pathogenic (in PMC)
- UniProt: Pathogenic (in PMC)
- Structural context available
- Cited in: Cold extends electromyography distinction between ion channel mutations causing myotonia. (PMID 16786525)
- Cited in: What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed. (PMID 18166706)