R272C (p.Arg272Cys) variant of ASS1 (Argininosuccinate synthase)
R272C (p.Arg272Cys) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Citrullinemia type I; Citrullinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R272C (p.Arg272Cys) variant details
- p.Arg272Cys
- rs762387914
- ClinGen CA5283537
- NCI-TCGA Cosmic COSV6168
- cosmic curated COSV61689
- Pathogenic
- Citrullinemia type I; Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.90
- CADD 26.00
- PolyPhen-2 0.24
- SIFT 0.02
- ClinVar: Pathogenic (Citrullinemia type I; Citrullinemia)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the East Asian population (allele frequency 5e-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: Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate… (PMID 27287393)