T43K (p.Thr43Lys) variant of ASH1L (Q9NR48)
T43K (p.Thr43Lys) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
T43K (p.Thr43Lys) variant details
- p.Thr43Lys
- ExAC rs749009326
- gnomAD rs749009326
- Missense
- REVEL 0.23
- CADD 21.00
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)