E213K (p.Glu213Lys) variant of ATP1A3 (P13637)
E213K (p.Glu213Lys) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
E213K (p.Glu213Lys) variant details
- p.Glu213Lys
- rs1420042955
- ClinGen CA406054134
- ClinVar RCV002918043
- ClinVar RCV005495420
- Uncertain significance
- Inborn genetic diseases; Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- AlphaMissense 0.98
- MetaLR 0.83
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Uncertain significance (Inborn genetic diseases; Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)