E3A (p.Glu3Ala) variant of TUBB3 (Tubulin beta-3 chain)
E3A (p.Glu3Ala) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E3A (p.Glu3Ala) variant details
- p.Glu3Ala
- gnomAD 16-89923409-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.77
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available