L39V (p.Leu39Val) variant of ASH1L (Q9NR48)
L39V (p.Leu39Val) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
L39V (p.Leu39Val) variant details
- p.Leu39Val
- ExAC rs745674657
- gnomAD rs745674657
- Missense
- REVEL 0.24
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)