G308E (p.Gly308Glu) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
G308E (p.Gly308Glu) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Gilbert syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G308E (p.Gly308Glu) variant details
- p.Gly308Glu
- rs62625011
- ClinGen CA122054
- cosmic curated COSV10461
- ClinVar RCV000013060
- Pathogenic/Likely pathogenic
- Gilbert syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.95
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Gilbert syndrome; not provided)
- EBI: Pathogenic (in CN1)
- UniProt: Pathogenic (in CN1)
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and… (PMID 11013440)
- Cited in: The cDNA sequence and expression of a variant 17 beta-hydroxysteroid UDP-glucuronosyltransferase. (PMID 1692835)