W179R (p.Trp179Arg) variant of ASS1 (Argininosuccinate synthase)
W179R (p.Trp179Arg) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Citrullinemia; not provided; Citrullinemia type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
W179R (p.Trp179Arg) variant details
- p.Trp179Arg
- rs121908646
- ClinGen CA118130
- ClinVar RCV000006707
- ClinVar RCV000256312
- Pathogenic
- Citrullinemia; not provided; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.92
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Citrullinemia; not provided; Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- Cited in: Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients… (PMID 11941481)
- Cited in: Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38… (PMID 12815590)