R157C (p.Arg157Cys) variant of ASS1 (Argininosuccinate synthase)
R157C (p.Arg157Cys) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Citrullinemia; Citrullinemia type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R157C (p.Arg157Cys) variant details
- p.Arg157Cys
- rs770585183
- ClinGen CA5283296
- ClinVar RCV001004331
- ClinVar RCV001376579
- Pathogenic
- Citrullinemia; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.87
- CADD 24.70
- PolyPhen-2 0.12
- SIFT 0.04
- ClinVar: Pathogenic (Citrullinemia; Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available
- Cited in: Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38… (PMID 12815590)
- Cited in: Improved standards for prenatal diagnosis of citrullinemia. (PMID 24889030)