E39V (p.Glu39Val) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
E39V (p.Glu39Val) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E39V (p.Glu39Val) variant details
- p.Glu39Val
- Ensembl rs1644585712
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.28
- MetaLR 0.30
- MetaSVM -0.74
- CADD 22.70
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available