E283K (p.Glu283Lys) variant of ASS1 (Argininosuccinate synthase)
E283K (p.Glu283Lys) 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 type I; Citrullinemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
E283K (p.Glu283Lys) variant details
- p.Glu283Lys
- rs765338121
- ClinGen CA5283562
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10075
- Pathogenic/Likely pathogenic
- Citrullinemia type I; Citrullinemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Citrullinemia type I; Citrullinemia; not provided)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Population evidence available
- 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: Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in… (PMID 16475226)