V189A (p.Val189Ala) variant of ATP1A3 (P13637)
V189A (p.Val189Ala) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ATP1A3-related disorder. The record also includes structural context.
V189A (p.Val189Ala) variant details
- p.Val189Ala
- rs2514078768
- ClinGen CA406054362
- ClinVar RCV004552405
- Uncertain significance
- ATP1A3-related disorder
- Missense
- ClinVar: Uncertain significance (ATP1A3-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available