C76* (p.Cys76Ter) variant of ATXN2 (Ataxin-2)
C76* (p.Cys76Ter) in ATXN2 (Ataxin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and published literature.
C76* (p.Cys76Ter) variant details
- p.Cys76Ter
- gnomAD 12-111453660-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.727
- CADD 21.50
- Population evidence available
- Literature evidence available