A26E (p.Ala26Glu) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
A26E (p.Ala26Glu) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A26E (p.Ala26Glu) variant details
- p.Ala26Glu
- gnomAD 1-55039914-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.17
- MetaSVM -0.91
- CADD 5.86
- Population evidence available
- Structural context available
- Literature evidence available