G276R (p.Gly276Arg) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
G276R (p.Gly276Arg) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Crigler-Najjar syndrome, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G276R (p.Gly276Arg) variant details
- p.Gly276Arg
- rs72551345
- ClinGen CA2179894
- ClinVar RCV001808119
- UniProt VAR 007699
- Pathogenic
- Crigler-Najjar syndrome, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.92
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Crigler-Najjar syndrome, type II)
- 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: Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine… (PMID 7989595)