T80I (p.Thr80Ile) variant of TUBA1A (Tubulin alpha-1A chain)
T80I (p.Thr80Ile) in TUBA1A (Tubulin alpha-1A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T80I (p.Thr80Ile) variant details
- p.Thr80Ile
- rs199717430
- gnomAD 12-49186601-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- CADD 14.80
- SIFT 0.02
- Most common in the 1KG:ESN population (allele frequency 0.13)
- Structural context available
- Literature evidence available