G17E (p.Gly17Glu) variant of TUBB3 (Tubulin beta-3 chain)
G17E (p.Gly17Glu) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G17E (p.Gly17Glu) variant details
- p.Gly17Glu
- gnomAD 16-89923451-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.80
- CADD 29.90
- PolyPhen-2 0.84
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available