E20D (p.Glu20Asp) variant of KMT2C (Q8NEZ4)
E20D (p.Glu20Asp) in KMT2C (Q8NEZ4) is a missense change. Clinical records from EBI and UniProt describe it as benign.
E20D (p.Glu20Asp) variant details
- p.Glu20Asp
- 1000Genomes rs191834730
- ESP rs191834730
- ExAC rs191834730
- TOPMed rs191834730
- Benign
- Missense
- EBI: Benign
- UniProt: Benign