R8Q (p.Arg8Gln) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
R8Q (p.Arg8Gln) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial hypercholesterolemia; Hypercholesterolemia, autosomal dominant, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- rs1021280547
- ClinGen CA22791797
- ClinVar RCV003606870
- Ensembl rs1021280547
- Conflicting interpretations
- Familial hypercholesterolemia; Hypercholesterolemia, autosomal dominant, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.02
- ESM-1b 0.31
- AlphaMissense 0.12
- MetaLR 0.13
- MetaSVM -1.03
- CADD 12.90
- ClinVar: Conflicting classifications of pathogenicity (Familial hypercholesterolemia; Hypercholesterolemia, autosomal d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- 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)