L15W (p.Leu15Trp) variant of ASS1 (Argininosuccinate synthase)
L15W (p.Leu15Trp) in ASS1 (Argininosuccinate synthase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L15W (p.Leu15Trp) variant details
- p.Leu15Trp
- gnomAD 9-130452269-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.752
- CADD 25.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available