G54A (p.Gly54Ala) variant of ATXN1 (Ataxin-1)
G54A (p.Gly54Ala) in ATXN1 (Ataxin-1) is a missense change. The record also includes structural context.
G54A (p.Gly54Ala) variant details
- p.Gly54Ala
- ExAC rs762985181
- TOPMed rs762985181
- gnomAD rs762985181
- Missense
- Structural context available