CCM2 V141I - 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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Curation:
Currentness:

CCM2 V141I

(CCM2 Val141Ile)


Short summary

 

Variant evidence
Computational 1

PolyPhen2: Benign, score 0.001
SIFT: Affect protein function 0.01
GVGD: GV 123.92; GD 28.68; Class C0
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.63);
PolyPhen=benign(0.001);
Condel=neutral(0.189)
Mutation Tasting Prediction: Polymorphism, P value: 0.746229; protein features (might be) affected (aa 59-248 DOMAIN PID gets lost)

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants
het A @ chr7:45070656

 

NA12878

 

Other external references
 

    GeneTests
  • GeneTests records for the CCM2 gene
    Familial Cerebral Cavernous Malformation
    Familial Cerebral Cavernous Malformation 2
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CCM2
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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