Q48E (p.Gln48Glu) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
Q48E (p.Gln48Glu) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gilbert syndrome; Lucey-Driscoll syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
Q48E (p.Gln48Glu) variant details
- p.Gln48Glu
- rs747942373
- ClinGen CA2179779
- ClinVar RCV000733745
- ClinVar RCV001139761
- Uncertain significance
- Gilbert syndrome; Lucey-Driscoll syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.15
- CADD 5.96
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Gilbert syndrome; Lucey-Driscoll syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available