S23S (p.Ser23Ser) variant of SETBP1 (SET-binding protein)
S23S (p.Ser23Ser) in SETBP1 (SET-binding protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S23S (p.Ser23Ser) variant details
- p.Ser23Ser
- rs1166375180
- gnomAD 18-44701415-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.214
- CADD 10.10
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available