I4V (p.Ile4Val) variant of TUBB3 (Tubulin beta-3 chain)
I4V (p.Ile4Val) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
I4V (p.Ile4Val) variant details
- p.Ile4Val
- gnomAD 16-89923411-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.46
- CADD 28.10
- PolyPhen-2 0.51
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available