Q31E (p.Gln31Glu) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
Q31E (p.Gln31Glu) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
Q31E (p.Gln31Glu) variant details
- p.Gln31Glu
- gnomAD rs1304809659
- Uncertain significance
- Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.17
- MetaSVM -0.98
- CADD 12.50
- ClinVar: Uncertain significance (Familial hypercholesterolemia)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available