G230A (p.Gly230Ala) variant of ASS1 (Argininosuccinate synthase)
G230A (p.Gly230Ala) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Citrullinemia type I. The record also includes population frequency data, published literature, and structural context.
G230A (p.Gly230Ala) variant details
- p.Gly230Ala
- rs1085307056
- ClinGen CA375229025
- ClinVar RCV000490502
- Ensembl rs1085307056
- Likely pathogenic
- Citrullinemia type I
- Missense
- ClinVar: Likely pathogenic (Citrullinemia type I)
- EBI: Likely pathogenic (in CTLN1)
- UniProt: Likely pathogenic (in CTLN1)
- Population evidence available
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Citrullinemia Type I. (PMID 20301631)