E34G (p.Glu34Gly) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
E34G (p.Glu34Gly) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E34G (p.Glu34Gly) variant details
- p.Glu34Gly
- gnomAD 1-55039938-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.16
- MetaSVM -0.92
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available