p.Leu22 Leu23del variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
p.Leu22 Leu23del in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu22 Leu23del variant details
- rs35574083
- gnomAD 1-55039879-ACTGCT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 9.59
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- 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)