G44D (p.Gly44Asp) variant of KMT2C (Q8NEZ4)
G44D (p.Gly44Asp) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
G44D (p.Gly44Asp) variant details
- p.Gly44Asp
- Ensembl rs868067467
- Missense
- REVEL 0.46
- CADD 24.60
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available