L16L (p.Leu16Leu) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
L16L (p.Leu16Leu) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L16L (p.Leu16Leu) variant details
- p.Leu16Leu
- gnomAD 1-55039883-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.197
- CADD 6.48
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Literature evidence available