Y291S (p.Tyr291Ser) variant of ASS1 (Argininosuccinate synthase)
Y291S (p.Tyr291Ser) 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; Citrullinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Y291S (p.Tyr291Ser) variant details
- p.Tyr291Ser
- UniProt VAR 058352
- Likely pathogenic
- Citrullinemia type I; Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.84
- CADD 24.90
- PolyPhen-2 0.75
- SIFT 0.16
- ClinVar: Likely pathogenic (Citrullinemia type I; Citrullinemia)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. (PMID 19006241)
- Cited in: Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural… (PMID 28111830)