E39* (p.Glu39Ter) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
E39* (p.Glu39Ter) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E39* (p.Glu39Ter) variant details
- p.Glu39Ter
- gnomAD 1-55039952-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available