L443P (p.Leu443Pro) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
L443P (p.Leu443Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L443P (p.Leu443Pro) variant details
- p.Leu443Pro
- rs758411577
- UniProt VAR 064961
- ExAC rs758411577
- gnomAD rs758411577
- Likely pathogenic
- Crigler-Najjar syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.89
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Crigler-Najjar syndrome)
- EBI: Pathogenic (in CN2)
- UniProt: Pathogenic (in CN2)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia. (PMID 17229650)
- Cited in: Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype… (PMID 19830808)