V4F (p.Val4Phe) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
V4F (p.Val4Phe) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
V4F (p.Val4Phe) variant details
- p.Val4Phe
- 1000Genomes rs186669805
- ExAC rs186669805
- TOPMed rs186669805
- gnomAD rs186669805
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.16
- MetaSVM -1.04
- CADD 8.82
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available