R8W (p.Arg8Trp) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
R8W (p.Arg8Trp) 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 Familial hypercholesterolemia; Hypercholesterolemia, autosomal dominant, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R8W (p.Arg8Trp) variant details
- p.Arg8Trp
- rs1426361407
- ClinGen CA340482623
- ClinVar RCV000772311
- ClinVar RCV003605680
- Uncertain significance
- Familial hypercholesterolemia; Hypercholesterolemia, autosomal dominant, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.13
- MetaSVM -1.02
- CADD 17.80
- ClinVar: Uncertain significance (Familial hypercholesterolemia; Hypercholesterolemia, autosomal d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)