E32G (p.Glu32Gly) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
E32G (p.Glu32Gly) 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.
E32G (p.Glu32Gly) variant details
- p.Glu32Gly
- gnomAD 1-55039932-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.21
- MetaSVM -0.93
- CADD 21.70
- Population evidence available
- Structural context available
- Literature evidence available