V5E (p.Val5Glu) variant of TUBB3 (Tubulin beta-3 chain)
V5E (p.Val5Glu) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
V5E (p.Val5Glu) variant details
- p.Val5Glu
- gnomAD 16-89923415-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.77
- CADD 31.00
- PolyPhen-2 0.71
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available