A2V (p.Ala2Val) variant of KMT2A (Q03164)
A2V (p.Ala2Val) in KMT2A (Q03164) is a missense change. The record also includes variant effect predictions and population frequency data.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- TOPMed rs1241117548
- Missense
- REVEL 0.34
- MetaLR 0.46
- MetaSVM -0.18
- CADD 24.50
- PolyPhen-2 0.75
- SIFT 0.00
- Population evidence available