UGT8 P226L - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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UGT8 P226L

(UGT8 Pro226Leu)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • T @ chr4:115544713: 2.5% (264/10758) in EVS
  • TG @ chr4:115764161: 4.0% (4/100) in GET-Evidence
  • Frequency shown in summary reports: 2.5% (264/10758)



huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het CG @ chr4:115544713


GS18940 - var-GS18940-1100-36-ASM
hom TG @ chr4:115764162


Other external references

  • rs4148254
  • rs6851610
  • Score: 0.999 (probably damaging)
    Web search results (8 hits -- see all)
  • UGT8 Gene - GeneCards | CGT Protein | CGT Antibody
    Regulatory transcription factor binding sites in the UGT8 gene upstream (promoter) region ... UGT8 Gene in genomic location: bands according to Ensembl, locations ...
  • Pharma DMET - SNPedia
    Pharma DMET. From SNPedia. Jump to: navigation, search. See also Pharma ADME ... (rs2235015) noncore snp rs2235015 ABCB1 ABCB1_2995G>A(A999T) ABCB1_2995G>A(A998T) ...
  • 2-hydroxyacylsphingosine 1-beta-galactosyltransferase ...
    UGT8. Synonyms: CGT, UGT4. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... P L: dbSNP rs4148254. VAR_052466. Natural variant. 368. 1. I M: dbSNP ...
  • HMDB00302.txt
    Uridine diphosphategalactose serves as a source of galactose in the synthesis of ... 4q26 # Metabolic_Enzyme_8_SNPs: rs4148254; rs11098261; rs4148255; rs6851610; ...
  • UniProt: Q16880
    AC Q16880; B3KXU7; O00196; DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot. ... GC04P115739; -. DR H-InvDB; HIX0024588; -. DR HGNC; HGNC:12555; UGT8. ...

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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