R4R (p.Arg4Arg) variant of SETBP1 (SET-binding protein)
R4R (p.Arg4Arg) in SETBP1 (SET-binding protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R4R (p.Arg4Arg) variant details
- p.Arg4Arg
- rs1335280930
- gnomAD 18-44701356-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.446
- CADD 13.30
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available