H44Y (p.His44Tyr) variant of SETD1B (Q9UPS6)
H44Y (p.His44Tyr) in SETD1B (Q9UPS6) is a missense 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.
H44Y (p.His44Tyr) variant details
- p.His44Tyr
- gnomAD 12-121804867-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.31
- CADD 22.70
- PolyPhen-2 0.52
- SIFT 0.86
- Population evidence available
- Structural context available
- Literature evidence available