D68E (p.Asp68Glu) variant of ASH1L (Q9NR48)
D68E (p.Asp68Glu) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
D68E (p.Asp68Glu) variant details
- p.Asp68Glu
- 1000Genomes rs201153025
- ExAC rs201153025
- TOPMed rs201153025
- gnomAD rs201153025
- Missense
- REVEL 0.24
- CADD 18.20
- PolyPhen-2 0.28
- SIFT 0.12
- Most common in the 1KG:CEU population (allele frequency 0.0042)