C33Y (p.Cys33Tyr) variant of SETBP1 (SET-binding protein)
C33Y (p.Cys33Tyr) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
C33Y (p.Cys33Tyr) variant details
- p.Cys33Tyr
- TOPMed rs1199198141
- gnomAD rs1199198141
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 25.90
- PolyPhen-2 0.74
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available