P50T (p.Pro50Thr) variant of ATXN1 (Ataxin-1)
P50T (p.Pro50Thr) in ATXN1 (Ataxin-1) is a missense change. The record also includes structural context.
P50T (p.Pro50Thr) variant details
- p.Pro50Thr
- ExAC rs772316456
- gnomAD rs772316456
- Missense
- Structural context available