E39E (p.Glu39Glu) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
E39E (p.Glu39Glu) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E39E (p.Glu39Glu) variant details
- p.Glu39Glu
- gnomAD 1-55039954-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.241
- CADD 12.40
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Literature evidence available