G117D (p.Gly117Asp) variant of ASS1 (Argininosuccinate synthase)
G117D (p.Gly117Asp) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Citrullinemia type I; Citrullinemia. 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.
G117D (p.Gly117Asp) variant details
- p.Gly117Asp
- rs745404241
- ClinGen CA375225343
- ClinVar RCV001004328
- ClinVar RCV002549237
- Pathogenic/Likely pathogenic
- Citrullinemia type I; Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.99
- CADD 26.50
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Citrullinemia type I; Citrullinemia)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Phenotype and genotype heterogeneity in Mediterranean citrullinemia. (PMID 11708871)
- Cited in: Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38… (PMID 12815590)