A76S (p.Ala76Ser) variant of ASS1 (Argininosuccinate synthase)
A76S (p.Ala76Ser) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A76S (p.Ala76Ser) variant details
- p.Ala76Ser
- gnomAD 9-130458452-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.55
- CADD 23.50
- PolyPhen-2 0.50
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available