L9L (p.Leu9Leu) variant of ASS1 (Argininosuccinate synthase)
L9L (p.Leu9Leu) in ASS1 (Argininosuccinate synthase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L9L (p.Leu9Leu) variant details
- p.Leu9Leu
- gnomAD 9-130452255-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.493
- CADD 13.60
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available