R279Q (p.Arg279Gln) variant of ASS1 (Argininosuccinate synthase)
R279Q (p.Arg279Gln) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R279Q (p.Arg279Gln) variant details
- p.Arg279Gln
- rs371265106
- ClinGen CA266756
- ClinVar RCV000078027
- ClinVar RCV000723467
- Pathogenic/Likely pathogenic
- Citrullinemia; not provided; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- REVEL 0.97
- CADD 33.00
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Citrullinemia; not provided; Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in… (PMID 16475226)
- Cited in: Phenotype and genotype heterogeneity in Mediterranean citrullinemia. (PMID 11708871)