L82P (p.Leu82Pro) variant of ASS1 (Argininosuccinate synthase)
L82P (p.Leu82Pro) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Citrullinemia; Citrullinemia type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
L82P (p.Leu82Pro) variant details
- p.Leu82Pro
- rs559043503
- ClinGen CA5283207
- ClinVar RCV000812699
- ClinVar RCV005049704
- Pathogenic/Likely pathogenic
- Citrullinemia; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.81
- CADD 28.90
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Citrullinemia; Citrullinemia type I)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Citrullinemia Type I. (PMID 20301631)