N42K (p.Asn42Lys) variant of ASH1L (Q9NR48)
N42K (p.Asn42Lys) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
N42K (p.Asn42Lys) variant details
- p.Asn42Lys
- TOPMed rs1468050249
- Missense
- REVEL 0.19
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)