S42T (p.Ser42Thr) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
S42T (p.Ser42Thr) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and structural context.
S42T (p.Ser42Thr) variant details
- p.Ser42Thr
- 1000Genomes rs533404227
- ExAC rs533404227
- TOPMed rs533404227
- gnomAD rs533404227
- Uncertain significance
- Missense
- SIFT 0.17
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available