Q70R (p.Gln70Arg) variant of ASH1L (Q9NR48)
Q70R (p.Gln70Arg) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
Q70R (p.Gln70Arg) variant details
- p.Gln70Arg
- ESP rs142234064
- ExAC rs142234064
- TOPMed rs142234064
- gnomAD rs142234064
- Missense
- REVEL 0.43
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00065)