R8L (p.Arg8Leu) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
R8L (p.Arg8Leu) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- Ensembl rs1021280547
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.13
- MetaSVM -1.01
- CADD 16.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available