I58V (p.Ile58Val) variant of ASH1L (Q9NR48)
I58V (p.Ile58Val) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
I58V (p.Ile58Val) variant details
- p.Ile58Val
- ExAC rs765334229
- TOPMed rs765334229
- gnomAD rs765334229
- Missense
- REVEL 0.16
- CADD 1.40
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 2.4e-05)