A60G (p.Ala60Gly) variant of ASH1L (Q9NR48)
A60G (p.Ala60Gly) in ASH1L (Q9NR48) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
A60G (p.Ala60Gly) variant details
- p.Ala60Gly
- ExAC rs767568776
- TOPMed rs767568776
- gnomAD rs767568776
- Uncertain significance
- Missense
- REVEL 0.29
- CADD 20.50
- PolyPhen-2 0.02
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)