W40* (p.Trp40Ter) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
W40* (p.Trp40Ter) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
W40* (p.Trp40Ter) variant details
- p.Trp40Ter
- ExAC rs749423657
- TOPMed rs749423657
- gnomAD rs749423657
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.76
- CADD 38.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available