L41M (p.Leu41Met) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
L41M (p.Leu41Met) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L41M (p.Leu41Met) variant details
- p.Leu41Met
- gnomAD 1-55039958-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.18
- MetaSVM -0.93
- CADD 18.50
- Population evidence available
- Structural context available
- Literature evidence available