R12Q (p.Arg12Gln) variant of KMT2A (Q03164)
R12Q (p.Arg12Gln) in KMT2A (Q03164) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
R12Q (p.Arg12Gln) variant details
- p.Arg12Gln
- gnomAD 11-118436547-G-A
- Missense
- REVEL 0.41
- CADD 27.30
- PolyPhen-2 0.89
- SIFT 0.00
- Population evidence available
- Literature evidence available