I75I (p.Ile75Ile) variant of TUBA1A (Tubulin alpha-1A chain)
I75I (p.Ile75Ile) in TUBA1A (Tubulin alpha-1A chain) is a protein-truncating 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.
I75I (p.Ile75Ile) variant details
- p.Ile75Ile
- rs1942184468
- gnomAD 12-49186612-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.231
- CADD 10.30
- Population evidence available
- Structural context available
- Literature evidence available