I7F (p.Ile7Phe) variant of TUBB3 (Tubulin beta-3 chain)
I7F (p.Ile7Phe) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
I7F (p.Ile7Phe) variant details
- p.Ile7Phe
- gnomAD 16-89923420-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.46
- CADD 24.50
- PolyPhen-2 0.09
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available