R363W (p.Arg363Trp) variant of ASS1 (Argininosuccinate synthase)
R363W (p.Arg363Trp) 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; not provided; Citrullinemia type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R363W (p.Arg363Trp) variant details
- p.Arg363Trp
- rs121908640
- ClinGen CA253833
- ClinVar RCV000006700
- ClinVar RCV000185787
- Pathogenic/Likely pathogenic
- Citrullinemia; not provided; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.89
- CADD 25.30
- PolyPhen-2 0.21
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Citrullinemia; not provided; Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the Non-Finnish European population (allele frequency 7.4e-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: Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia. (PMID 2358466)