T114A (p.Thr114Ala) variant of ASH1L (Q9NR48)
T114A (p.Thr114Ala) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
T114A (p.Thr114Ala) variant details
- p.Thr114Ala
- TOPMed rs1475364657
- Missense
- REVEL 0.25
- CADD 20.50
- PolyPhen-2 0.04
- SIFT 0.35
- Most common in the East Asian population (allele frequency 7.6e-05)