C12* (p.Cys12Ter) variant of TUBB3 (Tubulin beta-3 chain)
C12* (p.Cys12Ter) in TUBB3 (Tubulin beta-3 chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
C12* (p.Cys12Ter) variant details
- p.Cys12Ter
- gnomAD 16-89923437-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.474
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available