G27S (p.Gly27Ser) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
G27S (p.Gly27Ser) 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 0.14 / 1. The record also includes population frequency data and structural context.
G27S (p.Gly27Ser) variant details
- p.Gly27Ser
- TOPMed rs1644585224
- gnomAD rs1644585224
- Uncertain significance
- Hypercholesterolemia, autosomal dominant, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.16
- MetaSVM -0.95
- CADD 8.62
- ClinVar: Uncertain significance (Hypercholesterolemia, autosomal dominant, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available