Q27* (p.Gln27Ter) variant of ASS1 (Argininosuccinate synthase)
Q27* (p.Gln27Ter) in ASS1 (Argininosuccinate synthase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
Q27* (p.Gln27Ter) variant details
- p.Gln27Ter
- gnomAD 9-130452307-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.761
- CADD 38.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available