L9Q (p.Leu9Gln) variant of ASS1 (Argininosuccinate synthase)
L9Q (p.Leu9Gln) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
L9Q (p.Leu9Gln) variant details
- p.Leu9Gln
- gnomAD 9-130452254-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.97
- CADD 29.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available