D30Y (p.Asp30Tyr) variant of ASS1 (Argininosuccinate synthase)
D30Y (p.Asp30Tyr) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
D30Y (p.Asp30Tyr) variant details
- p.Asp30Tyr
- ExAC rs758038108
- TOPMed rs758038108
- gnomAD rs758038108
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.93
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available