L22P (p.Leu22Pro) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
L22P (p.Leu22Pro) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypercholesterolemia, autosomal dominant, 3; Cardiovascular phenotype; Familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L22P (p.Leu22Pro) variant details
- p.Leu22Pro
- rs1644584917
- ClinGen CA340482704
- ClinVar RCV001190098
- ClinVar RCV004010409
- Uncertain significance
- Hypercholesterolemia, autosomal dominant, 3; Cardiovascular phenotype; Familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.38
- ESM-1b 0.13
- AlphaMissense 0.08
- MetaLR 0.27
- MetaSVM -0.56
- CADD 24.20
- ClinVar: Uncertain significance (Hypercholesterolemia, autosomal dominant, 3; Cardiovascular phen)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)