R2T (p.Arg2Thr) variant of TUBB3 (Tubulin beta-3 chain)
R2T (p.Arg2Thr) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R2T (p.Arg2Thr) variant details
- p.Arg2Thr
- gnomAD 16-89923406-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.52
- CADD 29.40
- PolyPhen-2 0.71
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available