L48* (p.Leu48Ter) variant of ATL1 (Atlastin-1)
L48* (p.Leu48Ter) in ATL1 (Atlastin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L48* (p.Leu48Ter) variant details
- p.Leu48Ter
- gnomAD 14-50587939-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available