F83L (p.Phe83Leu) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
F83L (p.Phe83Leu) 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; Gilbert syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
F83L (p.Phe83Leu) variant details
- p.Phe83Leu
- cosmic curated COSV59396
- Ensembl rs2125985634
- Pathogenic/Likely pathogenic
- Crigler-Najjar syndrome type 1; Gilbert syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.29
- CADD 14.40
- PolyPhen-2 0.21
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (Crigler-Najjar syndrome type 1; Gilbert syndrome)
- EBI: Pathogenic (in GILBS)
- UniProt: Pathogenic (in GILBS)
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Novel missense mutation of the UGT1A1 gene in Thai siblings with Gilbert's syndrome. (PMID 12139570)
- Cited in: Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of… (PMID 18004206)