E40E (p.Glu40Glu) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
E40E (p.Glu40Glu) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E40E (p.Glu40Glu) variant details
- p.Glu40Glu
- gnomAD 1-55039957-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.558
- CADD 13.30
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available