D44Y (p.Asp44Tyr) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
D44Y (p.Asp44Tyr) 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, published literature, and structural context.
D44Y (p.Asp44Tyr) variant details
- p.Asp44Tyr
- gnomAD 4-69096650-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.19
- MetaLR 0.19
- MetaSVM -0.91
- CADD 16.70
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available