Q357R (p.Gln357Arg) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
Q357R (p.Gln357Arg) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Gilbert syndrome; not provided; Crigler-Najjar syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
Q357R (p.Gln357Arg) variant details
- p.Gln357Arg
- rs72551351
- ClinGen CA122091
- ClinVar RCV000013076
- ClinVar RCV003488338
- Likely pathogenic
- Gilbert syndrome; not provided; Crigler-Najjar syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.64
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Gilbert syndrome; not provided; Crigler-Najjar syndrome type 1)
- EBI: Pathogenic (in CN1)
- UniProt: Pathogenic (in CN1)
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and… (PMID 11013440)
- Cited in: Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within… (PMID 11968090)