A9S (p.Ala9Ser) variant of TUBB3 (Tubulin beta-3 chain)
A9S (p.Ala9Ser) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- gnomAD 16-89923426-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.36
- CADD 27.50
- PolyPhen-2 0.59
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available