L94P (p.Leu94Pro) variant of ATP1A3 (P13637)
L94P (p.Leu94Pro) 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 record also includes published literature and structural context.
L94P (p.Leu94Pro) variant details
- p.Leu94Pro
- rs2514084596
- ClinGen CA406056371
- ClinVar RCV002795956
- Pathogenic
- Dystonia 12
- Missense
- ClinVar: Pathogenic (Dystonia 12)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)