A58V (p.Ala58Val) variant of ATP1A3 (P13637)
A58V (p.Ala58Val) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Dystonia 12. The record also includes structural context.
A58V (p.Ala58Val) variant details
- p.Ala58Val
- cosmic curated COSV10964
- TOPMed rs2075303386
- Uncertain significance
- not provided; Dystonia 12
- Missense
- ClinVar: Uncertain significance (not provided; Dystonia 12)
- UniProt: Uncertain significance
- Structural context available