N184K (p.Asn184Lys) variant of ASS1 (Argininosuccinate synthase)
N184K (p.Asn184Lys) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Citrullinemia type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
N184K (p.Asn184Lys) variant details
- p.Asn184Lys
- rs368192467
- NCI-TCGA TCGA novel
- UniProt VAR 078402
- ESP rs368192467
- Likely pathogenic
- Citrullinemia type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.87
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Citrullinemia type I)
- 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: Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural… (PMID 28111830)
- Cited in: Phenotype and genotype heterogeneity in Mediterranean citrullinemia. (PMID 11708871)