E66K (p.Glu66Lys) variant of SETD1B (Q9UPS6)
E66K (p.Glu66Lys) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E66K (p.Glu66Lys) variant details
- p.Glu66Lys
- gnomAD 12-121805139-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.93
- CADD 23.30
- PolyPhen-2 0.39
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available