A2E (p.Ala2Glu) variant of KMT2A (Q03164)
A2E (p.Ala2Glu) in KMT2A (Q03164) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- gnomAD 11-118436517-C-A
- Missense
- REVEL 0.33
- CADD 24.40
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Literature evidence available