T6S (p.Thr6Ser) variant of ASH1L (Q9NR48)
T6S (p.Thr6Ser) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
T6S (p.Thr6Ser) variant details
- p.Thr6Ser
- TOPMed rs1193888970
- gnomAD rs1193888970
- Missense
- REVEL 0.32
- CADD 22.90
- PolyPhen-2 0.97
- SIFT 0.15
- Most common in the REMAINING population (allele frequency 1.7e-05)