T43R (p.Thr43Arg) variant of ASH1L (Q9NR48)
T43R (p.Thr43Arg) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
T43R (p.Thr43Arg) variant details
- p.Thr43Arg
- ExAC rs749009326
- gnomAD rs749009326
- Missense
- REVEL 0.24
- CADD 20.50
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)