A93V (p.Ala93Val) variant of ASH1L (Q9NR48)
A93V (p.Ala93Val) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
A93V (p.Ala93Val) variant details
- p.Ala93Val
- Ensembl rs1001928178
- Missense
- REVEL 0.52
- CADD 27.00
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)