G2S (p.Gly2Ser) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
G2S (p.Gly2Ser) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G2S (p.Gly2Ser) variant details
- p.Gly2Ser
- rs2523162641
- ClinGen CA340482588
- ClinVar RCV004014563
- Uncertain significance
- Hypercholesterolemia, autosomal dominant, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.23
- MetaSVM -0.82
- CADD 23.00
- ClinVar: Uncertain significance (Hypercholesterolemia, autosomal dominant, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)