G28E (p.Gly28Glu) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
G28E (p.Gly28Glu) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
G28E (p.Gly28Glu) variant details
- p.Gly28Glu
- gnomAD 2-233760370-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.30
- CADD 22.40
- PolyPhen-2 0.69
- SIFT 0.05
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available