R2S (p.Arg2Ser) variant of TUBB3 (Tubulin beta-3 chain)
R2S (p.Arg2Ser) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R2S (p.Arg2Ser) variant details
- p.Arg2Ser
- gnomAD 16-89923407-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.52
- CADD 28.60
- PolyPhen-2 0.64
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available