W45* (p.Trp45Ter) variant of ATXN1 (Ataxin-1)
W45* (p.Trp45Ter) in ATXN1 (Ataxin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
W45* (p.Trp45Ter) variant details
- p.Trp45Ter
- gnomAD rs1414571635
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.849
- CADD 36.00
- Population evidence available
- Structural context available