T28S (p.Thr28Ser) variant of ASH1L (Q9NR48)
T28S (p.Thr28Ser) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
T28S (p.Thr28Ser) variant details
- p.Thr28Ser
- TOPMed rs1428513096
- gnomAD rs1428513096
- Missense
- REVEL 0.30
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)