S27G (p.Ser27Gly) variant of ASH1L (Q9NR48)
S27G (p.Ser27Gly) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
S27G (p.Ser27Gly) variant details
- p.Ser27Gly
- 1000Genomes rs545408345
- ExAC rs545408345
- TOPMed rs545408345
- gnomAD rs545408345
- Missense
- REVEL 0.23
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the East Asian population (allele frequency 0.00019)