G36D (p.Gly36Asp) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
G36D (p.Gly36Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
G36D (p.Gly36Asp) variant details
- p.Gly36Asp
- rs1256244941
- ClinGen CA340482787
- ClinVar RCV003172697
- ClinVar RCV004808459
- Uncertain significance
- Hypercholesterolemia, autosomal dominant, 3; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.12
- MetaSVM -1.04
- CADD 3.97
- ClinVar: Uncertain significance (Hypercholesterolemia, autosomal dominant, 3; Cardiovascular phen)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- 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)