R336W (p.Arg336Trp) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
R336W (p.Arg336Trp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R336W (p.Arg336Trp) variant details
- p.Arg336Trp
- rs139607673
- ClinGen CA2179964
- cosmic curated COSV59398
- ClinVar RCV000503685
- Pathogenic
- Crigler-Najjar syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.73
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Crigler-Najjar syndrome; not provided)
- EBI: Pathogenic (in CN2)
- UniProt: Pathogenic (in CN2)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and… (PMID 11013440)
- Cited in: Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and… (PMID 15712364)