E46Q (p.Glu46Gln) variant of ASH1L (Q9NR48)
E46Q (p.Glu46Gln) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
E46Q (p.Glu46Gln) variant details
- p.Glu46Gln
- gnomAD rs1668877114
- Missense
- REVEL 0.44
- CADD 23.20
- PolyPhen-2 0.26
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)