R72* (p.Arg72Ter) variant of APOC2 (Apolipoprotein C-II)
R72* (p.Arg72Ter) in APOC2 (Apolipoprotein C-II) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R72* (p.Arg72Ter) variant details
- p.Arg72Ter
- rs120074111
- gnomAD 19-44948822-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.116
- CADD 4.94
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Apolipoprotein CII-Padova (Tyr37-->stop) as a cause of chylomicronaemia in an Italian kindred from Siculiana. (PMID 7815420)
- Cited in: Apolipoprotein C-II deficiency syndrome. Clinical features, lipoprotein characterization, lipase activity, and… (PMID 3944267)