E46E (p.Glu46Glu) variant of ASS1 (Argininosuccinate synthase)
E46E (p.Glu46Glu) 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.
E46E (p.Glu46Glu) variant details
- p.Glu46Glu
- gnomAD 9-130454337-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.152
- CADD 10.10
- Population evidence available
- Structural context available
- Literature evidence available