R7R (p.Arg7Arg) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
R7R (p.Arg7Arg) 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.
R7R (p.Arg7Arg) variant details
- p.Arg7Arg
- gnomAD 1-55039856-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 6.34
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Literature evidence available