E82K (p.Glu82Lys) variant of ASH1L (Q9NR48)
E82K (p.Glu82Lys) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
E82K (p.Glu82Lys) variant details
- p.Glu82Lys
- Ensembl rs1571052988
- Missense
- REVEL 0.62
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)