Q56E (p.Gln56Glu) variant of KMT2D (O14686)
Q56E (p.Gln56Glu) in KMT2D (O14686) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q56E (p.Gln56Glu) variant details
- p.Gln56Glu
- Ensembl rs1592162790
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available