L23R (p.Leu23Arg) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
L23R (p.Leu23Arg) 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 and structural context.
L23R (p.Leu23Arg) variant details
- p.Leu23Arg
- TOPMed rs1557497443
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.29
- MetaSVM -0.54
- CADD 20.90
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available