H8Y (p.His8Tyr) variant of SETD1B (Q9UPS6)
H8Y (p.His8Tyr) in SETD1B (Q9UPS6) 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 0.37 / 1. The record also includes population frequency data and structural context.
H8Y (p.His8Tyr) variant details
- p.His8Tyr
- ExAC rs770426488
- TOPMed rs770426488
- gnomAD rs770426488
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available