G12R (p.Gly12Arg) variant of ASH1L (Q9NR48)
G12R (p.Gly12Arg) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- ExAC rs755568171
- gnomAD rs755568171
- Missense
- REVEL 0.51
- CADD 23.30
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)