A18D (p.Ala18Asp) variant of TUBB3 (Tubulin beta-3 chain)
A18D (p.Ala18Asp) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A18D (p.Ala18Asp) variant details
- p.Ala18Asp
- gnomAD 16-89923454-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.45
- CADD 29.40
- PolyPhen-2 0.63
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available