I89V (p.Ile89Val) variant of ASH1L (Q9NR48)
I89V (p.Ile89Val) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
I89V (p.Ile89Val) variant details
- p.Ile89Val
- gnomAD rs1240366273
- Missense
- REVEL 0.47
- CADD 24.70
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)