G22R (p.Gly22Arg) variant of KMT2A (Q03164)
G22R (p.Gly22Arg) in KMT2A (Q03164) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
G22R (p.Gly22Arg) variant details
- p.Gly22Arg
- gnomAD 11-118436572-C-CG
- Frameshift
- CADD 25.70
- Population evidence available
- Literature evidence available