R209W (p.Arg209Trp) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
R209W (p.Arg209Trp) 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 II; Gilbert syndrome; BILIRUBIN, SERUM LEVEL OF, Q. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R209W (p.Arg209Trp) variant details
- p.Arg209Trp
- rs72551343
- ClinGen CA2179856
- ClinVar RCV000503589
- ClinVar RCV000623653
- Pathogenic/Likely pathogenic
- Crigler-Najjar syndrome, type II; Gilbert syndrome; BILIRUBIN, SERUM LEVEL OF, Q
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.88
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Crigler-Najjar syndrome, type II; Gilbert syndrome; BILIRUBIN, S)
- EBI: Pathogenic (in CN2)
- UniProt: Pathogenic (in CN2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)