A18T (p.Ala18Thr) variant of TUBB3 (Tubulin beta-3 chain)
A18T (p.Ala18Thr) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- gnomAD 16-89923453-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.11
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available