Q8E (p.Gln8Glu) variant of TUBB3 (Tubulin beta-3 chain)
Q8E (p.Gln8Glu) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Q8E (p.Gln8Glu) variant details
- p.Gln8Glu
- gnomAD 16-89923423-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.48
- CADD 24.10
- PolyPhen-2 0.08
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available