G117S (p.Gly117Ser) variant of ASS1 (Argininosuccinate synthase)
G117S (p.Gly117Ser) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Citrullinemia type I; Citrullinemia. 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.
G117S (p.Gly117Ser) variant details
- p.Gly117Ser
- rs770944877
- ClinGen CA5283233
- NCI-TCGA Cosmic COSV6168
- cosmic curated COSV61689
- Pathogenic
- Citrullinemia type I; Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.97
- CADD 25.30
- PolyPhen-2 0.78
- SIFT 0.05
- ClinVar: Pathogenic (Citrullinemia type I; Citrullinemia)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38… (PMID 12815590)
- Cited in: Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate… (PMID 27287393)