R265H (p.Arg265His) variant of ASS1 (Argininosuccinate synthase)
R265H (p.Arg265His) 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.
R265H (p.Arg265His) variant details
- p.Arg265His
- rs398123131
- ClinGen CA266755
- NCI-TCGA Cosmic COSV6168
- cosmic curated COSV61689
- Pathogenic/Likely pathogenic
- Citrullinemia; not provided; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.93
- CADD 24.30
- PolyPhen-2 0.15
- SIFT 0.06
- 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: Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38… (PMID 12815590)
- Cited in: Phenotype and genotype heterogeneity in Mediterranean citrullinemia. (PMID 11708871)