L18L (p.Leu18Leu) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
L18L (p.Leu18Leu) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L18L (p.Leu18Leu) variant details
- p.Leu18Leu
- rs373295327
- gnomAD 1-55039889-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.179
- CADD 8.24
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Literature evidence available