I20L (p.Ile20Leu) variant of ASS1 (Argininosuccinate synthase)
I20L (p.Ile20Leu) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
I20L (p.Ile20Leu) variant details
- p.Ile20Leu
- gnomAD 9-130452286-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.86
- CADD 27.60
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available