R29C (p.Arg29Cys) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
R29C (p.Arg29Cys) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R29C (p.Arg29Cys) variant details
- p.Arg29Cys
- rs866597555
- ClinGen CA340482740
- ClinVar RCV001179816
- gnomAD rs866597555
- Uncertain significance
- Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.11
- ESM-1b 0.62
- AlphaMissense 0.16
- MetaLR 0.14
- MetaSVM -0.93
- CADD 9.81
- ClinVar: Uncertain significance (Familial hypercholesterolemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)