C12W (p.Cys12Trp) variant of TUBB3 (Tubulin beta-3 chain)
C12W (p.Cys12Trp) 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.
C12W (p.Cys12Trp) variant details
- p.Cys12Trp
- gnomAD 16-89923435-TGC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available