E67K (p.Glu67Lys) variant of ASS1 (Argininosuccinate synthase)
E67K (p.Glu67Lys) 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.
E67K (p.Glu67Lys) variant details
- p.Glu67Lys
- rs1257036291
- ClinGen CA375224878
- ClinVar RCV003105044
- TOPMed rs1257036291
- Uncertain significance
- Citrullinemia
- Missense
- ClinVar: Uncertain significance (Citrullinemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available