D30D (p.Asp30Asp) variant of ASS1 (Argininosuccinate synthase)
D30D (p.Asp30Asp) in ASS1 (Argininosuccinate synthase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
D30D (p.Asp30Asp) variant details
- p.Asp30Asp
- rs371519061
- gnomAD 9-130452318-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 7.42
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available