Q27* (p.Gln27Ter) variant of APOC2 (Apolipoprotein C-II)
Q27* (p.Gln27Ter) in APOC2 (Apolipoprotein C-II) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
Q27* (p.Gln27Ter) variant details
- p.Gln27Ter
- TOPMed rs1970350323
- gnomAD rs1970350323
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 33.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available