E16D (p.Glu16Asp) variant of ASH1L (Q9NR48)
E16D (p.Glu16Asp) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
E16D (p.Glu16Asp) variant details
- p.Glu16Asp
- gnomAD rs1391197337
- Missense
- REVEL 0.38
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)