CFH V1007L - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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CFH V1007L

(CFH Val1007Leu)

Short summary


Variant evidence
Computational 3

PolyPhen2: Benign, score 0.000
SIFT: Tolerated 0.82
GVGD: GV 144.08; GD 0.00; Class C0
Variant Effect Predictor (Ensembl):
Mutation Tasting Prediction: Polymorphism, P value: 0.999991; protein features (might be) affected (aa 987-1045 DOMAIN Sushi 17 gets lost)

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 @ chr1:196711067: 9.0% (965/10758) in EVS
  • T @ chr1:194977689: 11.7% (15/128) in GET-Evidence
  • Frequency shown in summary reports: 9.0% (965/10758)





huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr1:196711067


GS18502 - var-GS18502-1100-36-ASM
het T @ chr1:194977690


GS18505 - var-GS18505-1100-36-ASM
hom T @ chr1:194977690


GS18508 - var-GS18508-1100-36-ASM
het T @ chr1:194977690


GS19017 - var-GS19017-1100-36-ASM
het T @ chr1:194977690


GS19020 - var-GS19020-1100-36-ASM
het T @ chr1:194977690


GS19025 - var-GS19025-1100-36-ASM
het T @ chr1:194977690


GS19026 - var-GS19026-1100-36-ASM
het T @ chr1:194977690


GS19238 - var-GS19238-1100-36-ASM
het T @ chr1:194977690


GS19239 - var-GS19239-1100-36-ASM
het T @ chr1:194977690


GS19240 - var-GS19240-1100-36-ASM
het T @ chr1:194977690


GS19703 - var-GS19703-1100-36-ASM
het T @ chr1:194977690


GS19704 - var-GS19704-1100-36-ASM
hom T @ chr1:194977690


GS19834 - var-GS19834-1100-36-ASM
het T @ chr1:194977690


Other external references

  • rs534399
  • GeneTests records for the CFH gene
    Age-related macular degeneration
    Age-Related Macular Degeneration 4
    Atypical Hemolytic-Uremic Syndrome
    CFH-Related Atypical Hemolytic-Uremic Syndrome
    CFH-Related Dense Deposit Disease / Membranoproliferative Glomer
    Dense Deposit Disease / Membranoproliferative Glomerulonephritis
  • Score: 0 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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