E52* (p.Glu52Ter) variant of APOA5 (Apolipoprotein A-V)
E52* (p.Glu52Ter) in APOA5 (Apolipoprotein A-V) 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 0.57 / 1. The record also includes population frequency data and structural context.
E52* (p.Glu52Ter) variant details
- p.Glu52Ter
- rs755144803
- ClinGen CA382740745
- ClinVar RCV002403354
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.568
- CADD 35.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available