G27A (p.Gly27Ala) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
G27A (p.Gly27Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes published literature and structural context.
G27A (p.Gly27Ala) variant details
- p.Gly27Ala
- rs1187613601
- ClinGen CA340482732
- ClinVar RCV001178695
- TOPMed rs1187613601
- Uncertain significance
- Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.16
- MetaSVM -0.97
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Uncertain significance (Familial hypercholesterolemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)