E298G (p.Glu298Gly) variant of ASS1 (Argininosuccinate synthase)
E298G (p.Glu298Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
E298G (p.Glu298Gly) variant details
- p.Glu298Gly
- rs372061654
- ClinGen CA220298
- ClinVar RCV000078029
- ClinVar RCV002514371
- Conflicting interpretations
- Citrullinemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.98
- CADD 27.50
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Citrullinemia; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available