Q67* (p.Gln67Ter) variant of ATXN2 (Ataxin-2)
Q67* (p.Gln67Ter) in ATXN2 (Ataxin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
Q67* (p.Gln67Ter) variant details
- p.Gln67Ter
- TOPMed rs968892056
- gnomAD rs968892056
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 36.00
- Most common in the African/African-American population (allele frequency 0.00012)