E112K (p.Glu112Lys) variant of ATP1A3 (P13637)
E112K (p.Glu112Lys) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified; Dystonia 12. The record also includes structural context.
E112K (p.Glu112Lys) variant details
- p.Glu112Lys
- cosmic curated COSV10511
- Ensembl rs2145983067
- Uncertain significance
- not specified; Dystonia 12
- Missense
- ClinVar: Uncertain significance (not specified; Dystonia 12)
- UniProt: Uncertain significance
- Structural context available