R8R (p.Arg8Arg) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
R8R (p.Arg8Arg) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R8R (p.Arg8Arg) variant details
- p.Arg8Arg
- gnomAD 1-55039859-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.131
- CADD 7.08
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available