R29P (p.Arg29Pro) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
R29P (p.Arg29Pro) 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 0.13 / 1. The record also includes structural context.
R29P (p.Arg29Pro) variant details
- p.Arg29Pro
- TOPMed rs1160058809
- gnomAD rs1160058809
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.14
- MetaSVM -1.02
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available