E71G (p.Glu71Gly) variant of ASS1 (Argininosuccinate synthase)
E71G (p.Glu71Gly) in ASS1 (Argininosuccinate synthase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E71G (p.Glu71Gly) variant details
- p.Glu71Gly
- gnomAD 9-130458435-A-AG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.672
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available