V5A (p.Val5Ala) variant of TUBB3 (Tubulin beta-3 chain)
V5A (p.Val5Ala) in TUBB3 (Tubulin beta-3 chain) is a protein-truncating 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.
V5A (p.Val5Ala) variant details
- p.Val5Ala
- gnomAD 16-89923413-CGT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.526
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available