N79D (p.Asn79Asp) variant of ASH1L (Q9NR48)
N79D (p.Asn79Asp) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
N79D (p.Asn79Asp) variant details
- p.Asn79Asp
- ExAC rs747697097
- gnomAD rs747697097
- Missense
- REVEL 0.39
- CADD 24.20
- PolyPhen-2 0.83
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)