L35L (p.Leu35Leu) variant of ASS1 (Argininosuccinate synthase)
L35L (p.Leu35Leu) in ASS1 (Argininosuccinate synthase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L35L (p.Leu35Leu) variant details
- p.Leu35Leu
- rs532327473
- gnomAD 9-130452331-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.556
- CADD 19.40
- Population evidence available
- Structural context available
- Literature evidence available