E52E (p.Glu52Glu) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
E52E (p.Glu52Glu) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
E52E (p.Glu52Glu) variant details
- p.Glu52Glu
- rs764715261
- gnomAD 4-69096676-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.096
- CADD 2.17
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available