A18V (p.Ala18Val) variant of TUBB3 (Tubulin beta-3 chain)
A18V (p.Ala18Val) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- gnomAD 16-89923454-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.39
- CADD 25.60
- PolyPhen-2 0.21
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available