Q5* (p.Gln5Ter) variant of ATXN1 (Ataxin-1)
Q5* (p.Gln5Ter) in ATXN1 (Ataxin-1) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Q5* (p.Gln5Ter) variant details
- p.Gln5Ter
- NCI-TCGA Cosmic COSV5521
- cosmic curated COSV55219
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.479
- AlphaMissense 0.54
- CADD 12.30
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available