Q27Q (p.Gln27Gln) variant of ASS1 (Argininosuccinate synthase)
Q27Q (p.Gln27Gln) in ASS1 (Argininosuccinate synthase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
Q27Q (p.Gln27Gln) variant details
- p.Gln27Gln
- gnomAD 9-130452309-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.151
- CADD 9.94
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available