R54S (p.Arg54Ser) variant of SETBP1 (SET-binding protein)
R54S (p.Arg54Ser) in SETBP1 (SET-binding protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R54S (p.Arg54Ser) variant details
- p.Arg54Ser
- TOPMed rs1325528399
- gnomAD rs1325528399
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- CADD 21.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available