Y359H (p.Tyr359His) variant of ASS1 (Argininosuccinate synthase)
Y359H (p.Tyr359His) 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; Citrullinemia type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
Y359H (p.Tyr359His) variant details
- p.Tyr359His
- rs1262020902
- ClinGen CA375232194
- ClinVar RCV002016489
- ClinVar RCV005361918
- Likely pathogenic
- Citrullinemia; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.90
- CADD 25.90
- PolyPhen-2 0.94
- SIFT 0.15
- ClinVar: Likely pathogenic (Citrullinemia; Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Citrullinemia Type I. (PMID 20301631)