Q13* (p.Gln13Ter) variant of KMT2C (Q8NEZ4)
Q13* (p.Gln13Ter) in KMT2C (Q8NEZ4) is a protein-truncating change. The record also includes variant effect predictions and population frequency data.
Q13* (p.Gln13Ter) variant details
- p.Gln13Ter
- 1000Genomes rs570689281
- gnomAD rs570689281
- Stop Gained
- CADD 35.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)