Q6* (p.Gln6Ter) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
Q6* (p.Gln6Ter) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Q6* (p.Gln6Ter) variant details
- p.Gln6Ter
- Ensembl rs2125982207
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.281
- CADD 28.30
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available