Q11* (p.Gln11Ter) variant of TUBA1A (Tubulin alpha-1A chain)
Q11* (p.Gln11Ter) in TUBA1A (Tubulin alpha-1A chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
Q11* (p.Gln11Ter) variant details
- p.Gln11Ter
- gnomAD 12-49186806-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.797
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available