p.Leu23dup variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
p.Leu23dup in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu23dup variant details
- rs35574083
- gnomAD 1-55039879-A-ACTG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 7.93
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)
- Cited in: Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in… (PMID 23820649)