G362V (p.Gly362Val) variant of ASS1 (Argininosuccinate synthase)
G362V (p.Gly362Val) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G362V (p.Gly362Val) variant details
- p.Gly362Val
- rs121908647
- ClinGen CA118131
- ClinVar RCV000006708
- ClinVar RCV000256322
- Pathogenic
- Citrullinemia; not provided; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.94
- CADD 28.20
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Pathogenic (Citrullinemia; not provided; Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the Middle Eastern population (allele frequency 0.00035)
- 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)