p.Leu17 Leu18insMet variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
p.Leu17 Leu18insMet in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu17 Leu18insMet variant details
- rs2100250994
- gnomAD 1-55039886-C-CTGA
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.225
- CADD 14.60
- Population evidence available
- Structural context available
- Literature evidence available