E40D (p.Glu40Asp) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
E40D (p.Glu40Asp) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E40D (p.Glu40Asp) variant details
- p.Glu40Asp
- gnomAD 1-55039957-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.19
- MetaSVM -0.88
- CADD 20.80
- Population evidence available
- Structural context available
- Literature evidence available