S3N (p.Ser3Asn) variant of ASS1 (Argininosuccinate synthase)
S3N (p.Ser3Asn) 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.
S3N (p.Ser3Asn) variant details
- p.Ser3Asn
- rs1845344324
- ClinGen CA375223469
- ClinVar RCV001325018
- Ensembl rs1845344324
- Uncertain significance
- Citrullinemia
- Missense
- ClinVar: Uncertain significance (Citrullinemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available