G390R (p.Gly390Arg) variant of ASS1 (Argininosuccinate synthase)
G390R (p.Gly390Arg) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G390R (p.Gly390Arg) variant details
- p.Gly390Arg
- rs121908641
- ClinGen CA253834
- ClinVar RCV000006701
- ClinVar RCV000185789
- Pathogenic
- Citrullinemia; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.97
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic (Citrullinemia; Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the South Asian population (allele frequency 0.00062)
- Structural context available
- Cited in: Phenotype and genotype heterogeneity in Mediterranean citrullinemia. (PMID 11708871)
- Cited in: Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients… (PMID 11941481)