E40G (p.Glu40Gly) variant of ASH1L (Q9NR48)
E40G (p.Glu40Gly) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
E40G (p.Glu40Gly) variant details
- p.Glu40Gly
- ExAC rs778787049
- TOPMed rs778787049
- gnomAD rs778787049
- Missense
- REVEL 0.33
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)