R52Q (p.Arg52Gln) variant of ASH1L (Q9NR48)
R52Q (p.Arg52Gln) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
R52Q (p.Arg52Gln) variant details
- p.Arg52Gln
- cosmic curated COSV64207
- ExAC rs750694607
- TOPMed rs750694607
- gnomAD rs750694607
- Missense
- REVEL 0.25
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the South Asian population (allele frequency 4.6e-05)