Y50Y (p.Tyr50Tyr) variant of SETD1B (Q9UPS6)
Y50Y (p.Tyr50Tyr) in SETD1B (Q9UPS6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
Y50Y (p.Tyr50Tyr) variant details
- p.Tyr50Tyr
- rs1179011662
- gnomAD 12-121804887-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.393
- CADD 12.70
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available