G55E (p.Gly55Glu) variant of ASS1 (Argininosuccinate synthase)
G55E (p.Gly55Glu) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G55E (p.Gly55Glu) variant details
- p.Gly55Glu
- gnomAD 9-130454363-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.94
- CADD 26.70
- PolyPhen-2 0.85
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available