C9 P167S - GET-Evidence

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

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C9 P167S

(C9 Pro167Ser)

Short summary

Saksens et al. find this variant to be among a few rare variants associated with age-related macular degeneration, however its effect appears to be related to earlier age at symptom onset and was not shown to segregate completely with disease within families.

Variant evidence
Computational 2

PolyPhen-2 predicts damaging effect

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 @ chr5:39331894: 0.6% (67/10758) in EVS
  • A @ chr5:39367650: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.6% (67/10758)


Saksens NT, Geerlings MJ, Bakker B, Schick T, Daha MR, Fauser S, Boon CJ, de Jong EK, Hoyng CB, den Hollander AI. Rare Genetic Variants Associated With Development of Age-Related Macular Degeneration. JAMA Ophthalmol. 2016 Mar 1;134(3):287-93. doi: 10.1001/jamaophthalmol.2015.5592. PubMed PMID: 26767664.



Other external references

  • Score: 0.999 (probably damaging)

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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