P31R (p.Pro31Arg) variant of KMT2A (Q03164)
P31R (p.Pro31Arg) in KMT2A (Q03164) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
P31R (p.Pro31Arg) variant details
- p.Pro31Arg
- gnomAD 11-118436600-GC-G
- Frameshift
- CADD 24.20
- Population evidence available
- Literature evidence available