COL15A1 P705L - GET-Evidence

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

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COL15A1 P705L

(COL15A1 Pro705Leu)

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 @ chr9:101797330: 1.5% (157/10758) in EVS
  • T @ chr9:100837150: 1.6% (2/126) in GET-Evidence
  • Frequency shown in summary reports: 1.5% (157/10758)



hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr9:101797330


hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr9:101797330


Other external references

  • rs41308900
  • Score: 0.997 (probably damaging)
    Web search results (2 hits -- see all)
  • Collagen alpha-1(XV) chain precursor - Homo sapiens (Human)
    COL15A1. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... chain of type XV collagen (COL15A1) and comparison with the homologous COL18A1 ...
  • UniProt: COFA1_HUMAN
    ... endostatin; DE Flags: Precursor; GN Name=COL15A1; OS Homo sapiens (Human). OC Eukaryota; ... RT chain of type XV collagen (COL15A1) and comparison with the homologous RT COL18A1 ...

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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