C12Y (p.Cys12Tyr) variant of TUBB3 (Tubulin beta-3 chain)
C12Y (p.Cys12Tyr) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
C12Y (p.Cys12Tyr) variant details
- p.Cys12Tyr
- gnomAD 16-89923436-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.87
- CADD 32.00
- PolyPhen-2 0.93
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available