Y48Y (p.Tyr48Tyr) variant of SETD1B (Q9UPS6)
Y48Y (p.Tyr48Tyr) in SETD1B (Q9UPS6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Y48Y (p.Tyr48Tyr) variant details
- p.Tyr48Tyr
- rs764034236
- gnomAD 12-121804881-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.427
- CADD 11.70
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available