G27R (p.Gly27Arg) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
G27R (p.Gly27Arg) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
G27R (p.Gly27Arg) variant details
- p.Gly27Arg
- gnomAD 1-55039914-CGG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.225
- CADD 16.80
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Literature evidence available