S27N (p.Ser27Asn) variant of ASH1L (Q9NR48)
S27N (p.Ser27Asn) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
S27N (p.Ser27Asn) variant details
- p.Ser27Asn
- ExAC rs773290434
- TOPMed rs773290434
- gnomAD rs773290434
- Missense
- REVEL 0.22
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 0.00048)