L23P (p.Leu23Pro) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
L23P (p.Leu23Pro) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L23P (p.Leu23Pro) variant details
- p.Leu23Pro
- gnomAD 1-55039902-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.382
- CADD 23.50
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available