K42* (p.Lys42Ter) variant of KMT2C (Q8NEZ4)
K42* (p.Lys42Ter) in KMT2C (Q8NEZ4) is a protein-truncating change. The record also includes variant effect predictions and population frequency data.
K42* (p.Lys42Ter) variant details
- p.Lys42Ter
- Ensembl rs2116821283
- Stop Gained
- CADD 35.00
- Population evidence available