R29G (p.Arg29Gly) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
R29G (p.Arg29Gly) 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; Hypobetalipoproteinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
R29G (p.Arg29Gly) variant details
- p.Arg29Gly
- rs866597555
- ClinGen CA340482739
- ClinVar RCV001097310
- ClinVar RCV001097311
- Uncertain significance
- Hypercholesterolemia, autosomal dominant, 3; Hypobetalipoproteinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.14
- MetaSVM -0.93
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Hypercholesterolemia, autosomal dominant, 3; Hypobetalipoprotein)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)