Q9* (p.Gln9Ter) variant of ATXN3 (Ataxin-3)
Q9* (p.Gln9Ter) in ATXN3 (Ataxin-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data.
Q9* (p.Gln9Ter) variant details
- p.Gln9Ter
- gnomAD rs1332881136
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 44.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)