R265C (p.Arg265Cys) variant of ASS1 (Argininosuccinate synthase)
R265C (p.Arg265Cys) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R265C (p.Arg265Cys) variant details
- p.Arg265Cys
- rs148918985
- ClinGen CA266754
- ClinVar RCV000078025
- ClinVar RCV001247325
- Pathogenic/Likely pathogenic
- Citrullinemia; not provided; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.89
- CADD 26.60
- PolyPhen-2 0.37
- 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 East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Investigation of citrullinemia type I variants by in vitro expression studies. (PMID 18473344)
- Cited in: Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. (PMID 19006241)