R304Q (p.Arg304Gln) variant of ASS1 (Argininosuccinate synthase)
R304Q (p.Arg304Gln) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Citrullinemia; Citrullinemia type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R304Q (p.Arg304Gln) variant details
- p.Arg304Gln
- rs771640767
- ClinGen CA5283570
- cosmic curated COSV61688
- ClinVar RCV001246468
- Likely pathogenic
- Citrullinemia; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.85
- CADD 25.00
- PolyPhen-2 0.76
- SIFT 0.05
- ClinVar: Likely pathogenic (Citrullinemia; Citrullinemia type I)
- EBI: Likely pathogenic (in CTLN1)
- UniProt: Likely pathogenic (in CTLN1)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Citrullinemia Type I. (PMID 20301631)