R127L (p.Arg127Leu) variant of ASS1 (Argininosuccinate synthase)
R127L (p.Arg127Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R127L (p.Arg127Leu) variant details
- p.Arg127Leu
- rs201623252
- ClinGen CA200612224
- cosmic curated COSV61690
- ClinVar RCV000665366
- Pathogenic/Likely pathogenic
- Citrullinemia type I; Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- REVEL 0.99
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Citrullinemia type I; Citrullinemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Improved standards for prenatal diagnosis of citrullinemia. (PMID 24889030)
- Cited in: Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate… (PMID 27287393)