PRR15 P124H - GET-Evidence

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

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PRR15 P124H

(PRR15 Pro124His)

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

  • A @ chr7:29606316: 5.1% (538/10614) in EVS
  • A @ chr7:29572840: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 5.1% (538/10614)





GS20509 - var-GS20509-1100-36-ASM
het A @ chr7:29572841


Other external references

  • rs112093295
  • Score: 0.998 (probably damaging)
    Web search results (1 hit -- see all)
  • Supporting Information
    quality score of less than 45 were excluded; (ii) for heterozygous. bases, reads ... PRR15. P124H. NA. chr6. 42,940,693. G A. 35. 1.142. KIAA0240. R924Q. NA. chr14 ...

Other in silico analyses

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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