R272L (p.Arg272Leu) variant of ASS1 (Argininosuccinate synthase)
R272L (p.Arg272Leu) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Citrullinemia type I. 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.
R272L (p.Arg272Leu) variant details
- p.Arg272Leu
- rs768215008
- ClinGen CA5283538
- ClinVar RCV003466414
- ClinVar RCV006262820
- Likely pathogenic
- not provided; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- REVEL 0.99
- CADD 32.00
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate… (PMID 27287393)
- Cited in: Phenotype and genotype heterogeneity in Mediterranean citrullinemia. (PMID 11708871)