Q49E (p.Gln49Glu) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
Q49E (p.Gln49Glu) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q49E (p.Gln49Glu) variant details
- p.Gln49Glu
- TOPMed rs587776765
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available