T119I (p.Thr119Ile) variant of ASS1 (Argininosuccinate synthase)
T119I (p.Thr119Ile) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Citrullinemia type I; Citrullinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
T119I (p.Thr119Ile) variant details
- p.Thr119Ile
- rs1845507027
- ClinGen CA375225351
- ClinVar RCV001209466
- ClinVar RCV003462700
- Pathogenic/Likely pathogenic
- Citrullinemia type I; Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.96
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Citrullinemia type I; Citrullinemia)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Phenotype and genotype heterogeneity in Mediterranean citrullinemia. (PMID 11708871)
- Cited in: Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate… (PMID 27287393)