Y90* (p.Tyr90Ter) variant of ATL1 (Atlastin-1)
Y90* (p.Tyr90Ter) in ATL1 (Atlastin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
Y90* (p.Tyr90Ter) variant details
- p.Tyr90Ter
- gnomAD 14-50588066-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.892
- CADD 35.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available