A69S (p.Ala69Ser) variant of ASH1L (Q9NR48)
A69S (p.Ala69Ser) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
A69S (p.Ala69Ser) variant details
- p.Ala69Ser
- TOPMed rs1418644741
- gnomAD rs1418644741
- Missense
- REVEL 0.33
- CADD 24.20
- PolyPhen-2 0.76
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)