E45D (p.Glu45Asp) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
E45D (p.Glu45Asp) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E45D (p.Glu45Asp) variant details
- p.Glu45Asp
- ESP rs373225477
- ExAC rs373225477
- TOPMed rs373225477
- gnomAD rs373225477
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.22
- MetaLR 0.43
- MetaSVM -0.52
- CADD 15.40
- PolyPhen-2 0.87
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available