K44E (p.Lys44Glu) variant of ASH1L (Q9NR48)
K44E (p.Lys44Glu) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
K44E (p.Lys44Glu) variant details
- p.Lys44Glu
- gnomAD rs1558188569
- Missense
- REVEL 0.26
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)