E66Q (p.Glu66Gln) variant of SETD1B (Q9UPS6)
E66Q (p.Glu66Gln) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E66Q (p.Glu66Gln) variant details
- p.Glu66Gln
- gnomAD 12-121805139-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.72
- CADD 22.80
- PolyPhen-2 0.10
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available