L43P (p.Leu43Pro) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
L43P (p.Leu43Pro) 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.
L43P (p.Leu43Pro) variant details
- p.Leu43Pro
- gnomAD 1-55039965-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.45
- MetaSVM -0.12
- CADD 25.60
- Population evidence available
- Structural context available
- Literature evidence available