E71E (p.Glu71Glu) variant of ASS1 (Argininosuccinate synthase)
E71E (p.Glu71Glu) in ASS1 (Argininosuccinate synthase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E71E (p.Glu71Glu) variant details
- p.Glu71Glu
- rs373501531
- gnomAD 9-130458439-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 10.60
- Population evidence available
- Structural context available
- Literature evidence available