Q17E (p.Gln17Glu) variant of UNC13D (Protein unc-13 homolog D)
Q17E (p.Gln17Glu) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q17E (p.Gln17Glu) variant details
- p.Gln17Glu
- TOPMed rs2064970978
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available