K51E (p.Lys51Glu) variant of ASH1L (Q9NR48)
K51E (p.Lys51Glu) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
K51E (p.Lys51Glu) variant details
- p.Lys51Glu
- gnomAD rs1385570264
- Missense
- REVEL 0.19
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)