L22F (p.Leu22Phe) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
L22F (p.Leu22Phe) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L22F (p.Leu22Phe) variant details
- p.Leu22Phe
- TOPMed rs1266907594
- gnomAD rs1266907594
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.19
- ESM-1b 1.00
- AlphaMissense 0.07
- MetaLR 0.23
- MetaSVM -0.71
- CADD 13.50
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available