Y59* (p.Tyr59Ter) variant of APOC2 (Apolipoprotein C-II)
Y59* (p.Tyr59Ter) in APOC2 (Apolipoprotein C-II) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Y59* (p.Tyr59Ter) variant details
- p.Tyr59Ter
- rs120074111
- ClinGen CA115616
- ClinVar RCV000002683
- ClinVar RCV000002684
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A nonsense mutation in the apolipoprotein C-IIPadova gene in a patient with apolipoprotein C-II deficiency. (PMID 2477392)
- Cited in: Apolipoprotein C-II deficiency syndrome. Clinical features, lipoprotein characterization, lipase activity, and… (PMID 3944267)