G45R (p.Gly45Arg) variant of TUBA1A (Tubulin alpha-1A chain)
G45R (p.Gly45Arg) in TUBA1A (Tubulin alpha-1A chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G45R (p.Gly45Arg) variant details
- p.Gly45Arg
- gnomAD 12-49186705-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 29.50
- Population evidence available
- Structural context available
- Literature evidence available