V5M (p.Val5Met) variant of TUBB3 (Tubulin beta-3 chain)
V5M (p.Val5Met) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
V5M (p.Val5Met) variant details
- p.Val5Met
- gnomAD 16-89923414-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.57
- CADD 26.50
- PolyPhen-2 0.30
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available