Y34* (p.Tyr34Ter) variant of ASS1 (Argininosuccinate synthase)
Y34* (p.Tyr34Ter) in ASS1 (Argininosuccinate synthase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Y34* (p.Tyr34Ter) variant details
- p.Tyr34Ter
- gnomAD 9-130452330-T-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.477
- CADD 36.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available