E4D (p.Glu4Asp) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
E4D (p.Glu4Asp) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
E4D (p.Glu4Asp) variant details
- p.Glu4Asp
- ExAC rs781590934
- gnomAD rs781590934
- Missense
- Variant Prioritization Score for Impact Estimate 0.0677
- REVEL 0.07
- CADD 0.48
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available