L18R (p.Leu18Arg) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
L18R (p.Leu18Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L18R (p.Leu18Arg) variant details
- p.Leu18Arg
- rs1322134519
- ClinGen CA340482682
- ClinVar RCV004016999
- TOPMed rs1322134519
- Uncertain significance
- Hypercholesterolemia, autosomal dominant, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.43
- ESM-1b 1.00
- AlphaMissense 0.21
- MetaLR 0.40
- MetaSVM -0.29
- CADD 23.80
- ClinVar: Uncertain significance (Hypercholesterolemia, autosomal dominant, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)