E59A (p.Glu59Ala) variant of ASH1L (Q9NR48)
E59A (p.Glu59Ala) in ASH1L (Q9NR48) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and population frequency data.
E59A (p.Glu59Ala) variant details
- p.Glu59Ala
- gnomAD rs1204718205
- Likely benign
- Missense
- REVEL 0.25
- CADD 11.90
- PolyPhen-2 0.02
- SIFT 0.09
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)