D609Y (p.Asp609Tyr) variant of ATP1A3 (P13637)
D609Y (p.Asp609Tyr) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Alternating hemiplegia of childhood 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
D609Y (p.Asp609Tyr) variant details
- p.Asp609Tyr
- rs2075190697
- ClinGen CA406045249
- ClinVar RCV001004770
- UniProt VAR 086449
- Pathogenic/Likely pathogenic
- Alternating hemiplegia of childhood 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (Alternating hemiplegia of childhood 2)
- EBI: Pathogenic (in DEE99)
- UniProt: Pathogenic (in DEE99)
- Structural context available
- Cited in: ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. (PMID 33880529)
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)