E277K (p.Glu277Lys) variant of ATP1A3 (P13637)
E277K (p.Glu277Lys) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
E277K (p.Glu277Lys) variant details
- p.Glu277Lys
- rs80356533
- ClinGen CA341235
- cosmic curated COSV57486
- ClinVar RCV000013774
- Pathogenic/Likely pathogenic
- not provided; Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- AlphaMissense 1.00
- MetaLR 0.76
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Pathogenic/Likely pathogenic (not provided; Dystonia 12)
- EBI: Pathogenic (in DYT12)
- UniProt: Pathogenic (in DYT12)
- Structural context available
- Cited in: Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. (PMID 15260953)
- Cited in: Case records of the Massachusetts General Hospital. Case 17-2010 - a 29-year-old woman with flexion of the left hand… (PMID 20558373)