E71A (p.Glu71Ala) variant of ASS1 (Argininosuccinate synthase)
E71A (p.Glu71Ala) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
E71A (p.Glu71Ala) variant details
- p.Glu71Ala
- gnomAD 9-130458438-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.85
- CADD 24.70
- PolyPhen-2 0.42
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available