E52* (p.Glu52Ter) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
E52* (p.Glu52Ter) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
E52* (p.Glu52Ter) variant details
- p.Glu52Ter
- gnomAD rs1409497478
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.55
- CADD 34.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available