A18P (p.Ala18Pro) variant of TUBB3 (Tubulin beta-3 chain)
A18P (p.Ala18Pro) in TUBB3 (Tubulin beta-3 chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A18P (p.Ala18Pro) variant details
- p.Ala18Pro
- gnomAD 16-89923449-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available