F72L (p.Phe72Leu) variant of ASS1 (Argininosuccinate synthase)
F72L (p.Phe72Leu) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Citrullinemia; not provided. The record also includes published literature and structural context.
F72L (p.Phe72Leu) variant details
- p.Phe72Leu
- rs1554982824
- ClinGen CA375224971
- ClinVar RCV000666531
- ClinVar RCV002530687
- Conflicting interpretations
- Citrullinemia; not provided
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Citrullinemia; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Citrullinemia Type I. (PMID 20301631)