L39I (p.Leu39Ile) variant of ASH1L (Q9NR48)
L39I (p.Leu39Ile) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
L39I (p.Leu39Ile) variant details
- p.Leu39Ile
- ExAC rs745674657
- gnomAD rs745674657
- Missense
- REVEL 0.22
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the South Asian population (allele frequency 4.6e-05)