H39D (p.His39Asp) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
H39D (p.His39Asp) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CN1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
H39D (p.His39Asp) variant details
- p.His39Asp
- rs72551339
- UniProt VAR 026135
- Ensembl rs72551339
- Pathogenic
- in CN1
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- AlphaMissense 0.92
- MetaLR 0.73
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- EBI: Pathogenic (in CN1)
- UniProt: Pathogenic (in CN1)
- 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)