I26V (p.Ile26Val) variant of ASH1L (Q9NR48)
I26V (p.Ile26Val) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
I26V (p.Ile26Val) variant details
- p.Ile26Val
- ExAC rs751862423
- TOPMed rs751862423
- gnomAD rs751862423
- Missense
- REVEL 0.23
- CADD 7.20
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)