A18S (p.Ala18Ser) variant of TUBB3 (Tubulin beta-3 chain)
A18S (p.Ala18Ser) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- gnomAD 16-89923453-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.09
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available