Q8L (p.Gln8Leu) variant of TUBB3 (Tubulin beta-3 chain)
Q8L (p.Gln8Leu) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Q8L (p.Gln8Leu) variant details
- p.Gln8Leu
- gnomAD 16-89923424-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.73
- CADD 31.00
- PolyPhen-2 0.81
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available