E34D (p.Glu34Asp) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
E34D (p.Glu34Asp) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E34D (p.Glu34Asp) variant details
- p.Glu34Asp
- gnomAD 1-55039939-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.12
- MetaSVM -1.03
- CADD 10.30
- Population evidence available
- Structural context available
- Literature evidence available