A444D (p.Ala444Asp) variant of SCN4A (Nav1.4)
A444D (p.Ala444Asp) 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 record also includes published literature and structural context.
A444D (p.Ala444Asp) variant details
- p.Ala444Asp
- rs2509315709
- ClinGen CA400635025
- ClinVar RCV003616945
- Pathogenic
- Hyperkalemic periodic paralysis
- Missense
- ClinVar: Pathogenic (Hyperkalemic periodic paralysis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hyperkalemic Periodic Paralysis. (PMID 20301669)