Q40* (p.Gln40Ter) variant of ASS1 (Argininosuccinate synthase)
Q40* (p.Gln40Ter) in ASS1 (Argininosuccinate synthase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
Q40* (p.Gln40Ter) variant details
- p.Gln40Ter
- gnomAD 9-130454317-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.88
- CADD 41.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available