Q33E (p.Gln33Glu) variant of PCDH19 (Protocadherin-19)
Q33E (p.Gln33Glu) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q33E (p.Gln33Glu) variant details
- p.Gln33Glu
- TOPMed rs1928479952
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available