R19* (p.Arg19Ter) variant of APOC3 (Apolipoprotein C-III)
R19* (p.Arg19Ter) in APOC3 (Apolipoprotein C-III) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R19* (p.Arg19Ter) variant details
- p.Arg19Ter
- rs76353203
- ClinGen CA127531
- cosmic curated COSV57139
- ClinVar RCV000019493
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.853
- CADD 35.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.091)
- Structural context available
- Cited in: A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. (PMID 19074352)
- Cited in: Loss-of-function mutations in APOC3, triglycerides, and coronary disease. (PMID 24941081)