L23S (p.Leu23Ser) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
L23S (p.Leu23Ser) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L23S (p.Leu23Ser) variant details
- p.Leu23Ser
- gnomAD 1-55039903-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.236
- CADD 22.00
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Literature evidence available