MAPT Q230R - GET-Evidence


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(MAPT Gln230Arg)

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Short summary

Common polymorphism.

Variant evidence
Computational -1

Polyphen 2 predicts “probably damaging”

Functional -
Case/Control 5

High allele frequency strongly contradicts any severe pathogenic effect.

See 15365985.

Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Low clinical importance, Uncertain benign

(The "low clinical importance, uncertain" 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)


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PubMed PMID: 15365985

Reported as a nonpathogenic polymorphism (Table 2).




Added in this revision:

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr17:44060859


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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