A56D (p.Ala56Asp) variant of ASS1 (Argininosuccinate synthase)
A56D (p.Ala56Asp) 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 structural context.
A56D (p.Ala56Asp) variant details
- p.Ala56Asp
- rs2131869336
- ClinGen CA375223867
- ClinVar RCV002019823
- Ensembl rs2131869336
- Uncertain significance
- Citrullinemia
- Missense
- ClinVar: Uncertain significance (Citrullinemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available