W11* (p.Trp11Ter) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
W11* (p.Trp11Ter) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
W11* (p.Trp11Ter) variant details
- p.Trp11Ter
- gnomAD rs1164872643
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available