Q72R (p.Gln72Arg) variant of ASH1L (Q9NR48)
Q72R (p.Gln72Arg) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
Q72R (p.Gln72Arg) variant details
- p.Gln72Arg
- 1000Genomes rs146475561
- ESP rs146475561
- ExAC rs146475561
- TOPMed rs146475561
- Missense
- REVEL 0.48
- CADD 24.80
- PolyPhen-2 0.47
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)