R2W (p.Arg2Trp) variant of TUBB3 (Tubulin beta-3 chain)
R2W (p.Arg2Trp) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R2W (p.Arg2Trp) variant details
- p.Arg2Trp
- gnomAD 16-89923405-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.73
- CADD 28.90
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available