L23F (p.Leu23Phe) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
L23F (p.Leu23Phe) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L23F (p.Leu23Phe) variant details
- p.Leu23Phe
- gnomAD 1-55039903-C-CTT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 21.70
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Literature evidence available