D14A (p.Asp14Ala) variant of ASH1L (Q9NR48)
D14A (p.Asp14Ala) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
D14A (p.Asp14Ala) variant details
- p.Asp14Ala
- ExAC rs753297401
- gnomAD rs753297401
- Missense
- REVEL 0.37
- CADD 23.70
- PolyPhen-2 0.09
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)