A36G (p.Ala36Gly) variant of ASS1 (Argininosuccinate synthase)
A36G (p.Ala36Gly) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A36G (p.Ala36Gly) variant details
- p.Ala36Gly
- gnomAD 9-130454306-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.88
- CADD 27.60
- PolyPhen-2 0.45
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available