R7R (p.Arg7Arg) variant of RB1 (P06400)
R7R (p.Arg7Arg) in RB1 (P06400) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R7R (p.Arg7Arg) variant details
- p.Arg7Arg
- rs1952051704
- gnomAD 13-48303931-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 12.50
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available