Q13* (p.Gln13Ter) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
Q13* (p.Gln13Ter) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a protein-truncating change. Clinical records from EBI and UniProt describe it as drug response. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
Q13* (p.Gln13Ter) variant details
- p.Gln13Ter
- rs1157290351
- ClinGen CA357095104
- ClinVar RCV001028165
- TOPMed rs1157290351
- Drug response
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.65
- CADD 32.00
- EBI: Drug response
- UniProt: Drug response
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available