K44N (p.Lys44Asn) variant of ASH1L (Q9NR48)
K44N (p.Lys44Asn) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
K44N (p.Lys44Asn) variant details
- p.Lys44Asn
- ExAC rs755691746
- TOPMed rs755691746
- gnomAD rs755691746
- Missense
- REVEL 0.30
- CADD 17.70
- PolyPhen-2 0.08
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)