K51R (p.Lys51Arg) variant of ASH1L (Q9NR48)
K51R (p.Lys51Arg) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
K51R (p.Lys51Arg) variant details
- p.Lys51Arg
- ExAC rs766785066
- TOPMed rs766785066
- gnomAD rs766785066
- Missense
- REVEL 0.29
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)