D6E (p.Asp6Glu) variant of KMT2C (Q8NEZ4)
D6E (p.Asp6Glu) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
D6E (p.Asp6Glu) variant details
- p.Asp6Glu
- TOPMed rs1384359152
- gnomAD rs1384359152
- Missense
- REVEL 0.33
- CADD 22.90
- PolyPhen-2 0.79
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)