E47K (p.Glu47Lys) variant of ASH1L (Q9NR48)
E47K (p.Glu47Lys) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
E47K (p.Glu47Lys) variant details
- p.Glu47Lys
- ExAC rs752098994
- gnomAD rs752098994
- Missense
- REVEL 0.32
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)