MAPT Q230R - 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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(MAPT Gln230Arg)

You are viewing an old version of this page that was saved on October 11, 2012 at 12:56pm by Madeleine Ball.

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

  • G @ chr17:44060859: 4.2% (449/10690) in EVS
  • G @ chr17:41416695: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 4.2% (449/10690)


Added in this revision:

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PubMed PMID: 15365985




GS10851 - var-GS10851-1100-36-ASM
het G @ chr17:41416696


Other external references

  • rs63750072
  • Score: 0.895 (probably damaging)
    Web search results (1 hit -- see all)
  • AD&FTD Mutation Database
    MAPT Gln230Arg Mutation Details (Table Legend) Gene. MAPT. Name. g.96899A>G (relative to ... p.Q230R. Region. EX4a. CDS. Phenotype. No Phenotype (Not pathogenic) ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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