Q49K (p.Gln49Lys) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
Q49K (p.Gln49Lys) 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.
Q49K (p.Gln49Lys) variant details
- p.Gln49Lys
- TOPMed rs587776765
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available