E32E (p.Glu32Glu) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
E32E (p.Glu32Glu) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
E32E (p.Glu32Glu) variant details
- p.Glu32Glu
- rs1291205662
- gnomAD 1-55039933-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 4.26
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Literature evidence available