C5* (p.Cys5Ter) variant of KMT2A (Q03164)
C5* (p.Cys5Ter) in KMT2A (Q03164) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
C5* (p.Cys5Ter) variant details
- p.Cys5Ter
- gnomAD 11-118436527-T-A
- Stop Gained
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Literature evidence available