E69D (p.Glu69Asp) variant of SETD1B (Q9UPS6)
E69D (p.Glu69Asp) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E69D (p.Glu69Asp) variant details
- p.Glu69Asp
- gnomAD 12-121805150-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.89
- CADD 22.50
- PolyPhen-2 0.06
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available