G2D (p.Gly2Asp) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
G2D (p.Gly2Asp) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G2D (p.Gly2Asp) variant details
- p.Gly2Asp
- rs1018576699
- ClinGen CA22791777
- ClinVar RCV004007994
- gnomAD rs1018576699
- Uncertain significance
- Hypercholesterolemia, autosomal dominant, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.25
- MetaSVM -0.78
- CADD 22.80
- ClinVar: Uncertain significance (Hypercholesterolemia, autosomal dominant, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- 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)