S27R (p.Ser27Arg) variant of ASH1L (Q9NR48)
S27R (p.Ser27Arg) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
S27R (p.Ser27Arg) variant details
- p.Ser27Arg
- 1000Genomes rs545408345
- ExAC rs545408345
- TOPMed rs545408345
- gnomAD rs545408345
- Missense
- REVEL 0.23
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the 1KG:IBS population (allele frequency 0.0048)