L19R (p.Leu19Arg) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
L19R (p.Leu19Arg) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L19R (p.Leu19Arg) variant details
- p.Leu19Arg
- gnomAD 1-55039893-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.21
- MetaLR 0.42
- MetaSVM -0.19
- CADD 25.00
- Population evidence available
- Structural context available
- Literature evidence available