V32I (p.Val32Ile) variant of ASH1L (Q9NR48)
V32I (p.Val32Ile) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
V32I (p.Val32Ile) variant details
- p.Val32Ile
- ESP rs370980279
- ExAC rs370980279
- TOPMed rs370980279
- gnomAD rs370980279
- Missense
- REVEL 0.22
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 4.8e-05)