I274T (p.Ile274Thr) variant of ATP1A3 (P13637)
I274T (p.Ile274Thr) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
I274T (p.Ile274Thr) variant details
- p.Ile274Thr
- rs80356532
- ClinGen CA341234
- ClinVar RCV000013773
- UniProt VAR 026735
- Pathogenic
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic (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: ATP1A3-Related Disorder. (PMID 20301294)