A99L (p.Ala99Leu) variant of TUBA1A (Tubulin alpha-1A chain)
A99L (p.Ala99Leu) in TUBA1A (Tubulin alpha-1A chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A99L (p.Ala99Leu) variant details
- p.Ala99Leu
- rs776188195
- gnomAD 12-49186544-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 0.57
- Population evidence available
- Structural context available
- Literature evidence available