Y486D (p.Tyr486Asp) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
Y486D (p.Tyr486Asp) 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; Crigler-Najjar syndrome type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
Y486D (p.Tyr486Asp) variant details
- p.Tyr486Asp
- rs34993780
- ClinGen CA122080
- cosmic curated COSV10589
- ClinVar RCV000013073
- Pathogenic/Likely pathogenic
- Crigler-Najjar syndrome, type II; Gilbert syndrome; Crigler-Najjar syndrome type
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.89
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Crigler-Najjar syndrome, type II; Gilbert syndrome; Crigler-Najj)
- EBI: Pathogenic (in CN2, GILBS and HBLRTFN)
- UniProt: Pathogenic (in CN2, GILBS and HBLRTFN)
- 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: Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine… (PMID 11061796)