E3G (p.Glu3Gly) variant of TUBB3 (Tubulin beta-3 chain)
E3G (p.Glu3Gly) 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.
E3G (p.Glu3Gly) variant details
- p.Glu3Gly
- gnomAD 16-89923409-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.78
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available