Y11* (p.Tyr11Ter) variant of ASS1 (Argininosuccinate synthase)
Y11* (p.Tyr11Ter) in ASS1 (Argininosuccinate synthase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Y11* (p.Tyr11Ter) variant details
- p.Tyr11Ter
- gnomAD 9-130452261-C-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available