E39Q (p.Glu39Gln) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
E39Q (p.Glu39Gln) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E39Q (p.Glu39Gln) variant details
- p.Glu39Gln
- gnomAD 1-55039952-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.32
- MetaSVM -0.73
- CADD 21.90
- Population evidence available
- Structural context available
- Literature evidence available