A9T (p.Ala9Thr) variant of TUBB3 (Tubulin beta-3 chain)
A9T (p.Ala9Thr) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- gnomAD 16-89923426-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.32
- CADD 23.30
- PolyPhen-2 0.05
- SIFT 0.42
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available