S180I (p.Ser180Ile) variant of ASS1 (Argininosuccinate synthase)
S180I (p.Ser180Ile) 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; not provided; 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.
S180I (p.Ser180Ile) variant details
- p.Ser180Ile
- rs121908638
- ClinGen CA375227223
- ClinVar RCV000529881
- ClinVar RCV001376549
- Pathogenic/Likely pathogenic
- Citrullinemia type I; not provided; Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.96
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Citrullinemia type I; not provided; Citrullinemia)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Improved standards for prenatal diagnosis of citrullinemia. (PMID 24889030)
- Cited in: Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate… (PMID 27287393)