D33E (p.Asp33Glu) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
D33E (p.Asp33Glu) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
D33E (p.Asp33Glu) variant details
- p.Asp33Glu
- gnomAD 1-55039936-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.15
- MetaSVM -1.03
- CADD 8.27
- Population evidence available
- Structural context available
- Literature evidence available