L54P (p.Leu54Pro) variant of ASS1 (Argininosuccinate synthase)
L54P (p.Leu54Pro) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
L54P (p.Leu54Pro) variant details
- p.Leu54Pro
- gnomAD 9-130454360-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.88
- CADD 24.50
- PolyPhen-2 0.06
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available