K96* (p.Lys96Ter) variant of TUBA1A (Tubulin alpha-1A chain)
K96* (p.Lys96Ter) in TUBA1A (Tubulin alpha-1A chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
K96* (p.Lys96Ter) variant details
- p.Lys96Ter
- gnomAD 12-49186399-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.591
- CADD 37.00
- Most common in the 1KG:LWK population (allele frequency 0.17)
- Structural context available
- Literature evidence available