D130N (p.Asp130Asn) variant of ASH1L (Q9NR48)
D130N (p.Asp130Asn) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
D130N (p.Asp130Asn) variant details
- p.Asp130Asn
- Ensembl rs2148842779
- Missense
- REVEL 0.38
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)