R307S (p.Arg307Ser) variant of ASS1 (Argininosuccinate synthase)
R307S (p.Arg307Ser) 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. The record also includes structural context.
R307S (p.Arg307Ser) variant details
- p.Arg307Ser
- rs183276875
- ClinGen CA375230644
- ClinVar RCV001991462
- 1000Genomes rs183276875
- Pathogenic/Likely pathogenic
- Citrullinemia
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Citrullinemia)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Structural context available