I4T (p.Ile4Thr) variant of TUBB3 (Tubulin beta-3 chain)
I4T (p.Ile4Thr) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
I4T (p.Ile4Thr) variant details
- p.Ile4Thr
- gnomAD 16-89923412-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.73
- CADD 25.90
- PolyPhen-2 0.42
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available