K44Q (p.Lys44Gln) variant of ASH1L (Q9NR48)
K44Q (p.Lys44Gln) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
K44Q (p.Lys44Gln) variant details
- p.Lys44Gln
- gnomAD rs1558188569
- Missense
- REVEL 0.25
- CADD 19.30
- PolyPhen-2 0.09
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)