C12F (p.Cys12Phe) variant of TUBB3 (Tubulin beta-3 chain)
C12F (p.Cys12Phe) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
C12F (p.Cys12Phe) variant details
- p.Cys12Phe
- gnomAD 16-89923436-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.82
- CADD 26.20
- PolyPhen-2 0.33
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available