Y63* (p.Tyr63Ter) variant of APOC2 (Apolipoprotein C-II)
Y63* (p.Tyr63Ter) 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 0.42 / 1. The record also includes population frequency data and structural context.
Y63* (p.Tyr63Ter) variant details
- p.Tyr63Ter
- rs754423238
- ClinGen CA406294586
- ClinVar RCV000784907
- ExAC rs754423238
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available