S3* (p.Ser3Ter) variant of ATXN2 (Ataxin-2)
S3* (p.Ser3Ter) in ATXN2 (Ataxin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
S3* (p.Ser3Ter) variant details
- p.Ser3Ter
- TOPMed rs1365416806
- gnomAD rs1365416806
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.519
- CADD 34.00
- Most common in the East Asian population (allele frequency 2.5e-05)