R127Q (p.Arg127Gln) variant of ASS1 (Argininosuccinate synthase)
R127Q (p.Arg127Gln) 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; 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.
R127Q (p.Arg127Gln) variant details
- p.Arg127Gln
- rs201623252
- ClinGen CA5283261
- ClinVar RCV000761475
- ClinVar RCV001386473
- Pathogenic
- Citrullinemia; Citrullinemia type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 0.92
- SIFT 0.03
- ClinVar: Pathogenic (Citrullinemia; Citrullinemia type I; not provided)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type… (PMID 14680976)
- Cited in: Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. (PMID 19006241)