E27V (p.Glu27Val) variant of ATXN1 (Ataxin-1)
E27V (p.Glu27Val) in ATXN1 (Ataxin-1) is a missense change. The record also includes structural context.
E27V (p.Glu27Val) variant details
- p.Glu27Val
- cosmic curated COSV10584
- Missense
- Structural context available