G126E (p.Gly126Glu) variant of ASH1L (Q9NR48)
G126E (p.Gly126Glu) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
G126E (p.Gly126Glu) variant details
- p.Gly126Glu
- TOPMed rs1421832262
- gnomAD rs1421832262
- Missense
- REVEL 0.45
- CADD 23.30
- PolyPhen-2 0.98
- SIFT 0.08
- Population evidence available