p.Leu21 Leu23del variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
p.Leu21 Leu23del in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu21 Leu23del variant details
- rs1644584450
- gnomAD 1-55039878-CACTGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 14.20
- Population evidence available
- Structural context available
- Literature evidence available