R336Q (p.Arg336Gln) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
R336Q (p.Arg336Gln) 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 Crigler-Najjar syndrome type 1; not provided; Lucey-Driscoll syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R336Q (p.Arg336Gln) variant details
- p.Arg336Gln
- rs750453538
- NCI-TCGA Cosmic COSV5939
- cosmic curated COSV59394
- UniProt VAR 026141
- Pathogenic/Likely pathogenic
- Crigler-Najjar syndrome type 1; not provided; Lucey-Driscoll syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.61
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Crigler-Najjar syndrome type 1; not provided; Lucey-Driscoll syn)
- EBI: Pathogenic (in CN1)
- UniProt: Pathogenic (in CN1)
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and… (PMID 15712364)
- Cited in: Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and… (PMID 11013440)