L13M (p.Leu13Met) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
L13M (p.Leu13Met) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L13M (p.Leu13Met) variant details
- p.Leu13Met
- gnomAD 1-55039874-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.13
- MetaLR 0.30
- MetaSVM -0.73
- CADD 15.20
- Population evidence available
- Structural context available
- Literature evidence available