A843D (p.Ala843Asp) variant of ATP1A3 (P13637)
A843D (p.Ala843Asp) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alternating hemiplegia of childhood 2. The record also includes published literature and structural context.
A843D (p.Ala843Asp) variant details
- p.Ala843Asp
- rs2514032270
- ClinGen CA406038598
- ClinVar RCV002466333
- Likely pathogenic
- Alternating hemiplegia of childhood 2
- Missense
- ClinVar: Likely pathogenic (Alternating hemiplegia of childhood 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)