R304W (p.Arg304Trp) variant of ASS1 (Argininosuccinate synthase)
R304W (p.Arg304Trp) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R304W (p.Arg304Trp) variant details
- p.Arg304Trp
- rs121908642
- ClinGen CA253835
- cosmic curated COSV10742
- ClinVar RCV000006702
- Pathogenic
- Citrullinemia; not provided; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.92
- CADD 24.00
- PolyPhen-2 0.29
- SIFT 0.03
- ClinVar: Pathogenic (Citrullinemia; not provided; Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the East Asian population (allele frequency 0.00019)
- 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: Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia. (PMID 2358466)