I112V (p.Ile112Val) variant of ASH1L (Q9NR48)
I112V (p.Ile112Val) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
I112V (p.Ile112Val) variant details
- p.Ile112Val
- ExAC rs764329610
- TOPMed rs764329610
- gnomAD rs764329610
- Missense
- REVEL 0.34
- CADD 23.90
- PolyPhen-2 0.51
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)