E32Q (p.Glu32Gln) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
E32Q (p.Glu32Gln) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E32Q (p.Glu32Gln) variant details
- p.Glu32Gln
- gnomAD 1-55039931-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.19
- MetaSVM -0.93
- CADD 17.00
- Population evidence available
- Structural context available
- Literature evidence available