I16T (p.Ile16Thr) variant of TUBB3 (Tubulin beta-3 chain)
I16T (p.Ile16Thr) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
I16T (p.Ile16Thr) variant details
- p.Ile16Thr
- gnomAD 16-89923448-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.75
- CADD 32.00
- PolyPhen-2 0.86
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available