R86H (p.Arg86His) variant of ASS1 (Argininosuccinate synthase)
R86H (p.Arg86His) 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; Citrullinemia type I; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R86H (p.Arg86His) variant details
- p.Arg86His
- rs575001023
- ClinGen CA5283210
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10075
- Pathogenic/Likely pathogenic
- Citrullinemia; Citrullinemia type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.80
- CADD 23.70
- PolyPhen-2 0.09
- SIFT 0.13
- ClinVar: Pathogenic/Likely pathogenic (Citrullinemia; Citrullinemia type I; not provided)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the East Asian population (allele frequency 0.00019)
- 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)