A7V (p.Ala7Val) variant of ASH1L (Q9NR48)
A7V (p.Ala7Val) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- gnomAD rs1338615092
- Missense
- REVEL 0.45
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)