Q331R (p.Gln331Arg) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
Q331R (p.Gln331Arg) 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; Crigler-Najjar syndrome type 1; Lucey-Driscoll syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
Q331R (p.Gln331Arg) variant details
- p.Gln331Arg
- rs72551348
- ClinGen CA122041
- ClinVar RCV000013058
- ClinVar RCV001818152
- Likely pathogenic
- Gilbert syndrome; Crigler-Najjar syndrome type 1; Lucey-Driscoll syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.75
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Gilbert syndrome; Crigler-Najjar syndrome type 1; Lucey-Driscoll)
- EBI: Pathogenic (in CN2)
- UniProt: Pathogenic (in CN2)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- 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)