G27D (p.Gly27Asp) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
G27D (p.Gly27Asp) 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 Cardiovascular phenotype; Familial hypercholesterolemia; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G27D (p.Gly27Asp) variant details
- p.Gly27Asp
- rs1187613601
- ClinGen CA340482731
- ClinVar RCV002419483
- ClinVar RCV003581847
- Uncertain significance
- Cardiovascular phenotype; Familial hypercholesterolemia; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.11
- ESM-1b 1.00
- AlphaMissense 0.07
- MetaLR 0.16
- MetaSVM -0.97
- CADD 13.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Familial hypercholesterolemia; not spe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)