E5D (p.Glu5Asp) variant of KMT2C (Q8NEZ4)
E5D (p.Glu5Asp) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
E5D (p.Glu5Asp) variant details
- p.Glu5Asp
- Ensembl rs1590054258
- Missense
- REVEL 0.36
- CADD 23.90
- PolyPhen-2 0.64
- SIFT 0.00
- Population evidence available