ABCF3 P503L - 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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(ABCF3 Pro503Leu)

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 @ chr3:183908982: 3.1% (333/10758) in EVS
  • T @ chr3:185391675: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 3.1% (333/10758)



huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr3:183908982


GS19648 - var-GS19648-1100-36-ASM
het T @ chr3:185391676


Other external references

  • rs11706273
  • Score: 0.554 (possibly damaging)
    Web search results (7 hits -- see all)
  • ABCF3 Gene - GeneCards | ABCF3 Protein | ABCF3 Antibody
    ABCF3 Gene in genomic location: bands according to Ensembl, locations according to (and ... Monoclonal and Polyclonal Antibodies from Abnova (ABCF3) ...
  • Abcf3 : Blast Data : UCSD-Nature Molecule Pages
    Abcf3. Latest blast data retrieved 18 May 2010. Top 101 Blast Hits ... Isoform 1; Variant dbSNP:rs11706273 of ATP-binding cassette sub-family F member ...
  • Mooney Lab - MutDB
    Gene ID: ABCF3. Navigation: Non-Synonymous SNPs. Synonymous SNPs. Intronic SNPs. Untranslated ... ABCF3. Number of Transcript Variants. 0. Visualize Pathways. Using web services (slow) ...

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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