L15P (p.Leu15Pro) variant of ASS1 (Argininosuccinate synthase)
L15P (p.Leu15Pro) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
L15P (p.Leu15Pro) variant details
- p.Leu15Pro
- gnomAD 9-130452272-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.98
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available