L43I (p.Leu43Ile) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
L43I (p.Leu43Ile) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L43I (p.Leu43Ile) variant details
- p.Leu43Ile
- gnomAD 1-55039964-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.23
- ESM-1b 0.37
- AlphaMissense 0.13
- MetaLR 0.27
- MetaSVM -0.71
- CADD 17.90
- Population evidence available
- Structural context available
- Literature evidence available