Q40L (p.Gln40Leu) variant of ASS1 (Argininosuccinate synthase)
Q40L (p.Gln40Leu) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Citrullinemia type I. The record also includes published literature and structural context.
Q40L (p.Gln40Leu) variant details
- p.Gln40Leu
- rs2131869283
- ClinGen CA375223715
- ClinVar RCV003464667
- Ensembl rs2131869283
- Likely pathogenic
- Citrullinemia type I
- Missense
- ClinVar: Likely pathogenic (Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Structural context available
- Cited in: Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type… (PMID 14680976)
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)