T284I (p.Thr284Ile) variant of ASS1 (Argininosuccinate synthase)
T284I (p.Thr284Ile) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
T284I (p.Thr284Ile) variant details
- p.Thr284Ile
- rs886039853
- ClinGen CA10588902
- ClinVar RCV000256276
- ClinVar RCV002519007
- Likely pathogenic
- Citrullinemia; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.98
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Citrullinemia; Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Population evidence available
- 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)