L15V (p.Leu15Val) variant of ASS1 (Argininosuccinate synthase)
L15V (p.Leu15Val) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
L15V (p.Leu15Val) variant details
- p.Leu15Val
- TOPMed rs1845345480
- gnomAD rs1845345480
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.95
- CADD 25.20
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available