A30R (p.Ala30Arg) variant of KMT2A (Q03164)
A30R (p.Ala30Arg) in KMT2A (Q03164) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
A30R (p.Ala30Arg) variant details
- p.Ala30Arg
- gnomAD 11-118436593-A-AG
- Frameshift
- CADD 23.40
- Population evidence available
- Literature evidence available