R450L (p.Arg450Leu) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
R450L (p.Arg450Leu) 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 Crigler-Najjar syndrome, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R450L (p.Arg450Leu) variant details
- p.Arg450Leu
- rs200370335
- ClinGen CA67599434
- ClinVar RCV003108246
- 1000Genomes rs200370335
- Likely pathogenic
- Crigler-Najjar syndrome, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.60
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Crigler-Najjar syndrome, type II)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available