G90D (p.Gly90Asp) variant of ASS1 (Argininosuccinate synthase)
G90D (p.Gly90Asp) 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 type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G90D (p.Gly90Asp) variant details
- p.Gly90Asp
- rs1422867920
- ClinGen CA375225178
- ClinVar RCV003466416
- TOPMed rs1422867920
- Likely pathogenic
- Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.95
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Citrullinemia type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Citrullinemia Type I. (PMID 20301631)