A9V (p.Ala9Val) variant of TUBB3 (Tubulin beta-3 chain)
A9V (p.Ala9Val) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- gnomAD 16-89923427-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.33
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.32
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available