A99S (p.Ala99Ser) variant of TUBA1A (Tubulin alpha-1A chain)
A99S (p.Ala99Ser) in TUBA1A (Tubulin alpha-1A chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A99S (p.Ala99Ser) variant details
- p.Ala99Ser
- gnomAD 12-49186545-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 5.84
- Population evidence available
- Structural context available
- Literature evidence available