E4* (p.Glu4Ter) variant of KMT2C (Q8NEZ4)
E4* (p.Glu4Ter) in KMT2C (Q8NEZ4) is a protein-truncating change. The record also includes variant effect predictions and population frequency data.
E4* (p.Glu4Ter) variant details
- p.Glu4Ter
- gnomAD rs1307138056
- Stop Gained
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)