E16K (p.Glu16Lys) variant of ASH1L (Q9NR48)
E16K (p.Glu16Lys) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
E16K (p.Glu16Lys) variant details
- p.Glu16Lys
- cosmic curated COSV64207
- gnomAD rs1327217540
- Missense
- REVEL 0.42
- CADD 23.80
- PolyPhen-2 0.20
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)