L15R (p.Leu15Arg) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
L15R (p.Leu15Arg) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L15R (p.Leu15Arg) variant details
- p.Leu15Arg
- rs111033541
- ClinGen CA122115
- ClinVar RCV000013081
- ClinVar RCV001529911
- Likely pathogenic
- Gilbert syndrome; Crigler-Najjar syndrome type 1; Lucey-Driscoll syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.42
- CADD 23.40
- PolyPhen-2 0.40
- 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 Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and… (PMID 11013440)
- Cited in: Rapid proteasomal degradation of translocation-deficient UDP-glucuronosyltransferase 1A1 proteins in patients with… (PMID 14550264)