A28D (p.Ala28Asp) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
A28D (p.Ala28Asp) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A28D (p.Ala28Asp) variant details
- p.Ala28Asp
- gnomAD 1-55039920-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.09
- ESM-1b 0.77
- AlphaMissense 0.14
- MetaLR 0.15
- MetaSVM -0.91
- CADD 16.10
- Population evidence available
- Structural context available
- Literature evidence available