R56* (p.Arg56Ter) variant of KMT2C (Q8NEZ4)
R56* (p.Arg56Ter) in KMT2C (Q8NEZ4) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes variant effect predictions and population frequency data.
R56* (p.Arg56Ter) variant details
- p.Arg56Ter
- rs1283285486
- NCI-TCGA Cosmic COSV5128
- cosmic curated COSV51288
- TOPMed rs1283285486
- Variant assessed as somatic; high impact.
- Stop Gained
- CADD 37.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)