P75L (p.Pro75Leu) variant of ASS1 (Argininosuccinate synthase)
P75L (p.Pro75Leu) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
P75L (p.Pro75Leu) variant details
- p.Pro75Leu
- ExAC rs760286858
- TOPMed rs760286858
- gnomAD rs760286858
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.79
- CADD 23.90
- PolyPhen-2 0.58
- SIFT 0.05
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available