I7T (p.Ile7Thr) variant of TUBB3 (Tubulin beta-3 chain)
I7T (p.Ile7Thr) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
I7T (p.Ile7Thr) variant details
- p.Ile7Thr
- gnomAD 16-89923421-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.57
- CADD 26.40
- PolyPhen-2 0.96
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available