L18M (p.Leu18Met) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
L18M (p.Leu18Met) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
L18M (p.Leu18Met) variant details
- p.Leu18Met
- ESP rs373295327
- TOPMed rs373295327
- gnomAD rs373295327
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.28
- ESM-1b 1.00
- AlphaMissense 0.17
- MetaLR 0.44
- MetaSVM -0.11
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available