R307C (p.Arg307Cys) variant of ASS1 (Argininosuccinate synthase)
R307C (p.Arg307Cys) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Citrullinemia; not provided; Citrullinemia type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R307C (p.Arg307Cys) variant details
- p.Arg307Cys
- rs183276875
- ClinGen CA5283572
- cosmic curated COSV61689
- ClinVar RCV000255358
- Conflicting interpretations
- Citrullinemia; not provided; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.89
- CADD 23.70
- PolyPhen-2 0.85
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Citrullinemia; not provided; Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural… (PMID 28111830)
- Cited in: Phenotype and genotype heterogeneity in Mediterranean citrullinemia. (PMID 11708871)