S375F (p.Ser375Phe) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
S375F (p.Ser375Phe) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Crigler-Najjar syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S375F (p.Ser375Phe) variant details
- p.Ser375Phe
- rs72551353
- ClinGen CA122007
- ClinVar RCV000013054
- ClinVar RCV001851815
- Pathogenic
- not provided; Crigler-Najjar syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.50
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Crigler-Najjar syndrome)
- EBI: Pathogenic (in CN1)
- UniProt: Pathogenic (in CN1)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- 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)