TGFBI L509R - GET-Evidence

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

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(TGFBI Leu509Arg)

Short summary


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


Insufficiently evaluated pathogenic

(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

  • None available.



Other external references

  • GeneTests records for the TGFBI gene
    Avellino Corneal Dystrophy
    Corneal Dystrophy of Bowman Layer, Type 1
    Lattice Corneal Dystrophy Type I
    Lattice Corneal Dystrophy Type IIIa
  • Score: 0.96 (probably damaging)
    Web search results (2 hits -- see all)
  • A subset of patients with epithelial basement membrane ...
    ... individuals; we identified two different point mutations in the TGFBI/BIGH3 ... with EBMD and it increases the spectrum of mutations in the TGFBI/BIGH3 gene. ...
  • Type III 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... (0.529) GSK (0.876) colorectal cancer 12198537 TGFBI Q15582 L269F 263 VAR_031533 ...

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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