E23D (p.Glu23Asp) variant of SETD1B (Q9UPS6)
E23D (p.Glu23Asp) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E23D (p.Glu23Asp) variant details
- p.Glu23Asp
- ExAC rs767553186
- TOPMed rs767553186
- gnomAD rs767553186
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.65
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available