G39R (p.Gly39Arg) variant of ASS1 (Argininosuccinate synthase)
G39R (p.Gly39Arg) 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 type I; Citrullinemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G39R (p.Gly39Arg) variant details
- p.Gly39Arg
- rs2131869276
- ClinGen CA375223705
- ClinVar RCV001559206
- ClinVar RCV001751801
- Conflicting interpretations
- Citrullinemia type I; Citrullinemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.97
- CADD 29.20
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Citrullinemia type I; Citrullinemia; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Citrullinemia Type I. (PMID 20301631)