D44E (p.Asp44Glu) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
D44E (p.Asp44Glu) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
D44E (p.Asp44Glu) variant details
- p.Asp44Glu
- TOPMed rs1412265400
- gnomAD rs1412265400
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.06
- MetaLR 0.06
- MetaSVM -1.07
- CADD 0.06
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available