Q8* (p.Gln8Ter) variant of TUBB3 (Tubulin beta-3 chain)
Q8* (p.Gln8Ter) in TUBB3 (Tubulin beta-3 chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
Q8* (p.Gln8Ter) variant details
- p.Gln8Ter
- gnomAD 16-89923423-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.781
- CADD 39.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available