A69E (p.Ala69Glu) variant of ASH1L (Q9NR48)
A69E (p.Ala69Glu) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
A69E (p.Ala69Glu) variant details
- p.Ala69Glu
- Ensembl rs1668870901
- Missense
- REVEL 0.29
- CADD 22.80
- PolyPhen-2 0.72
- SIFT 0.37
- Most common in the East Asian population (allele frequency 0.00019)