A76V (p.Ala76Val) variant of ASS1 (Argininosuccinate synthase)
A76V (p.Ala76Val) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
A76V (p.Ala76Val) variant details
- p.Ala76Val
- gnomAD 9-130458453-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.79
- CADD 25.60
- PolyPhen-2 0.92
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available