L45M (p.Leu45Met) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
L45M (p.Leu45Met) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L45M (p.Leu45Met) variant details
- p.Leu45Met
- gnomAD 1-55039970-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.29
- MetaSVM -0.53
- CADD 22.50
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Literature evidence available