K117R (p.Lys117Arg) variant of ASH1L (Q9NR48)
K117R (p.Lys117Arg) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
K117R (p.Lys117Arg) variant details
- p.Lys117Arg
- gnomAD rs1170887213
- Missense
- REVEL 0.31
- CADD 19.10
- PolyPhen-2 0.15
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)