A164P (p.Ala164Pro) variant of ASS1 (Argininosuccinate synthase)
A164P (p.Ala164Pro) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Citrullinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
A164P (p.Ala164Pro) variant details
- p.Ala164Pro
- rs201445618
- ClinGen CA375226519
- ClinVar RCV001383413
- TOPMed rs201445618
- Pathogenic
- Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.96
- CADD 27.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Citrullinemia)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)