I16V (p.Ile16Val) variant of TUBB3 (Tubulin beta-3 chain)
I16V (p.Ile16Val) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
I16V (p.Ile16Val) variant details
- p.Ile16Val
- gnomAD 16-89923447-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.20
- CADD 24.00
- PolyPhen-2 0.02
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available