L54V (p.Leu54Val) variant of ASS1 (Argininosuccinate synthase)
L54V (p.Leu54Val) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Citrullinemia. The record also includes published literature and structural context.
L54V (p.Leu54Val) variant details
- p.Leu54Val
- rs1564902078
- ClinGen CA375223842
- ClinVar RCV000701082
- ClinVar RCV002233353
- Uncertain significance
- Citrullinemia
- Missense
- ClinVar: Uncertain significance (Citrullinemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Citrullinemia Type I. (PMID 20301631)