A32E (p.Ala32Glu) variant of KMT2C (Q8NEZ4)
A32E (p.Ala32Glu) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
A32E (p.Ala32Glu) variant details
- p.Ala32Glu
- gnomAD rs1272275874
- Missense
- REVEL 0.29
- CADD 22.40
- PolyPhen-2 0.04
- SIFT 0.05
- Population evidence available