A56V (p.Ala56Val) variant of ASS1 (Argininosuccinate synthase)
A56V (p.Ala56Val) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A56V (p.Ala56Val) variant details
- p.Ala56Val
- gnomAD 9-130454366-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.82
- CADD 26.00
- PolyPhen-2 0.94
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available