CALHM1 L86P - GET-Evidence

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

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(CALHM1 Leu86Pro)

You are viewing an old version of this page that was saved on March 5, 2012 at 11:56am by Genome Importing Robot.

Short summary


Variant evidence
Computational 3

PolyPhen2: Benign, score 0.000
SIFT: Tolerated 1.00
GVGD: GV 135.19; GD 0.00; Class C0
Variant Effect Predictor (Ensembl):
Mutation Tasting Prediction: Polymorphism, P value: 0.999976; no protein features affected.

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 @ chr10:105218252: 79.8% (8572/10744) in EVS
  • GGC,GGT @ chr10:105208241: 84.4% (81/96) in GET-Evidence
  • Frequency shown in summary reports: 79.8% (8572/10744)


Dreses-Werringloer U, Lambert JC, Vingtdeux V, Zhao H, Vais H, Siebert A, Jain A, Koppel J, Rovelet-Lecrux A, Hannequin D, Pasquier F, Galimberti D, Scarpini E, Mann D, Lendon C, Campion D, Amouyel P, Davies P, Foskett JK, Campagne F, Marambaud P. A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk. Cell. 2008 Jun 27;133(7):1149-61. PubMed PMID: 18585350; PubMed Central PMCID: PMC2577842.



hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het GGT @ chr10:105218252


hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom GGT @ chr10:105218252


Added in this revision:




hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom G @ chr10:105218252



hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom G @ chr10:105218252


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het GGC @ chr10:105218252


GS10851 - var-GS10851-1100-36-ASM
hom G @ chr10:105208242


GS12004 - var-GS12004-1100-36-ASM
hom G @ chr10:105208242


GS18502 - var-GS18502-1100-36-ASM
hom G @ chr10:105208242


GS18537 - var-GS18537-1100-36-ASM
hom G @ chr10:105208242


GS18558 - var-GS18558-1100-36-ASM
hom GGT @ chr10:105208242


GS18942 - var-GS18942-1100-36-ASM
hom G @ chr10:105208242


GS18947 - var-GS18947-1100-36-ASM
het GGT @ chr10:105208242


GS19129 - var-GS19129-1100-36-ASM
hom G @ chr10:105208242


GS19238 - var-GS19238-1100-36-ASM
hom G @ chr10:105208242


GS19239 - var-GS19239-1100-36-ASM
hom G @ chr10:105208242


GS19240 - var-GS19240-1100-36-ASM
hom G @ chr10:105208242


GS19669 - var-GS19669-1100-36-ASM
het G @ chr10:105208242


GS19703 - var-GS19703-1100-36-ASM
hom G @ chr10:105208242


GS19704 - var-GS19704-1100-36-ASM
hom G @ chr10:105208242


GS19735 - var-GS19735-1100-36-ASM
hom GGT @ chr10:105208242


GS19834 - var-GS19834-1100-36-ASM
hom G @ chr10:105208242


GS20502 - var-GS20502-1100-36-ASM
het GGT @ chr10:105208242


Other external references

  • rs2986017
  • [Alzheimer Disease]
    This variant increases amyloid-beta levels by interfering with CALHM1-mediated Ca(2+) permeability. The SNP is significantly associated with Alzheimer's disease in independent case-control studies of 3404 participants.
  • Score: 0 (benign)

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

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