D14N (p.Asp14Asn) variant of ASH1L (Q9NR48)
D14N (p.Asp14Asn) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
D14N (p.Asp14Asn) variant details
- p.Asp14Asn
- gnomAD rs1321580908
- Missense
- REVEL 0.45
- CADD 23.60
- PolyPhen-2 0.17
- SIFT 0.02
- Most common in the South Asian population (allele frequency 3.5e-05)