R307H (p.Arg307His) variant of ASS1 (Argininosuccinate synthase)
R307H (p.Arg307His) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R307H (p.Arg307His) variant details
- p.Arg307His
- rs571576756
- ClinGen CA5283573
- cosmic curated COSV61690
- ClinVar RCV000633520
- Conflicting interpretations
- Citrullinemia; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.78
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Citrullinemia; not provided; not specified)
- EBI: Likely pathogenic (in CTLN1)
- UniProt: Likely pathogenic (in CTLN1)
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Citrullinemia Type I. (PMID 20301631)