E45E (p.Glu45Glu) variant of ASS1 (Argininosuccinate synthase)
E45E (p.Glu45Glu) in ASS1 (Argininosuccinate synthase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E45E (p.Glu45Glu) variant details
- p.Glu45Glu
- gnomAD 9-130454334-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.226
- CADD 9.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available