CYP3A43 P340A - GET-Evidence

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

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CYP3A43 P340A

(CYP3A43 Pro340Ala)

Short summary


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


Insufficiently evaluated pharmacogenetic

(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 @ chr7:99457605: 13.7% (1477/10758) in EVS
  • G @ chr7:99295540: 15.9% (20/126) in GET-Evidence
  • Frequency shown in summary reports: 13.7% (1477/10758)


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PubMed PMID: 18566991







GS12004 - var-GS12004-1100-36-ASM
het G @ chr7:99295541


GS18501 - var-GS18501-1100-36-ASM
het G @ chr7:99295541


GS18504 - var-GS18504-1100-36-ASM
hom G @ chr7:99295541


GS19017 - var-GS19017-1100-36-ASM
hom G @ chr7:99295541


GS19020 - var-GS19020-1100-36-ASM
het G @ chr7:99295541


GS19025 - var-GS19025-1100-36-ASM
het G @ chr7:99295541


GS19026 - var-GS19026-1100-36-ASM
het G @ chr7:99295541


GS19129 - var-GS19129-1100-36-ASM
hom G @ chr7:99295541


GS19239 - var-GS19239-1100-36-ASM
het G @ chr7:99295541


GS19240 - var-GS19240-1100-36-ASM
het G @ chr7:99295541


GS19701 - var-GS19701-1100-36-ASM
het G @ chr7:99295541


GS19834 - var-GS19834-1100-36-ASM
het G @ chr7:99295541


GS21767 - var-GS21767-1100-36-ASM
het G @ chr7:99295541


Other external references

  • rs680055
  • [Prostatic Neoplasms]
    The CYP3A43*3 allele is characterized by the P340A variant in exon 10. A study at 622 inicident prostate cancer cases and 396 controls suggests a role for this variant in prostate cancer etiology. Another study in African Americans and Caucasians suggests also that this SNP contibutes to prostate cancer risk.; PubMed ID:15548719; PubMed ID:15894682
  • [Prostatic Neoplasms]
    A study in 1,090 Caucasian prostate cancer cases found significant associations involved CYP3A43 P340A genotypes and history of benign prostatic hyperplasia (BPH). These results of the study suggest that androgen metabolism may act in concert with inflammatory phenotypes such as BPH in determining prostate cancer severity.
  • Score: 0.925 (probably damaging)

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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