D124N (p.Asp124Asn) variant of ASS1 (Argininosuccinate synthase)
D124N (p.Asp124Asn) 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; Citrullinemia type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
D124N (p.Asp124Asn) variant details
- p.Asp124Asn
- rs936192871
- ClinGen CA200612215
- cosmic curated COSV61688
- ClinVar RCV000552381
- Pathogenic/Likely pathogenic
- Citrullinemia; Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.92
- CADD 28.80
- PolyPhen-2 0.61
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Citrullinemia; Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the South Asian population (allele frequency 0.00042)
- Structural context available
- Cited in: Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in… (PMID 16475226)
- Cited in: Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate… (PMID 27287393)