E40* (p.Glu40Ter) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
E40* (p.Glu40Ter) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E40* (p.Glu40Ter) variant details
- p.Glu40Ter
- gnomAD 1-55039955-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.537
- CADD 44.00
- Population evidence available
- Structural context available
- Literature evidence available