S180N (p.Ser180Asn) variant of ASS1 (Argininosuccinate synthase)
S180N (p.Ser180Asn) 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 not provided; Citrullinemia type I; Citrullinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
S180N (p.Ser180Asn) variant details
- p.Ser180Asn
- rs121908638
- ClinGen CA253831
- ClinVar RCV000006698
- ClinVar RCV000185782
- Pathogenic/Likely pathogenic
- not provided; Citrullinemia type I; Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.88
- CADD 24.50
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Citrullinemia type I; Citrullinemia)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the REMAINING population (allele frequency 0.00022)
- Structural context available
- Cited in: Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia. (PMID 2358466)
- Cited in: Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate… (PMID 27287393)