T94I (p.Thr94Ile) variant of TUBA1A (Tubulin alpha-1A chain)
T94I (p.Thr94Ile) in TUBA1A (Tubulin alpha-1A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
T94I (p.Thr94Ile) variant details
- p.Thr94Ile
- gnomAD 12-49186565-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- CADD 7.97
- SIFT 0.12
- Most common in the HGDP:OROQEN population (allele frequency 0.12)
- Structural context available
- Literature evidence available