E10* (p.Glu10Ter) variant of KMT2C (Q8NEZ4)
E10* (p.Glu10Ter) in KMT2C (Q8NEZ4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
E10* (p.Glu10Ter) variant details
- p.Glu10Ter
- gnomAD rs1590054120
- Uncertain significance
- Stop Gained
- CADD 36.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available