E39D (p.Glu39Asp) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
E39D (p.Glu39Asp) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
E39D (p.Glu39Asp) variant details
- p.Glu39Asp
- gnomAD 1-55039954-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.11
- MetaSVM -1.05
- CADD 16.60
- Population evidence available
- Structural context available
- Literature evidence available