COL9A1 S96P - 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:

COL9A1 S96P

(COL9A1 Ser96Pro)


Short summary

 

Variant evidence
Computational 1

PolyPhen2: Benign, score 0.000
SIFT: Tolerated 1.00
GVGD: GV 73.35; GD 0.00; Class C0
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.49);
PolyPhen=benign(0);
Condel=deleterious(0.512)
Mutation Tasting Prediction: Polymorphism, P value: 0.999905; protein features (might be) affected (aa 24-268 REGION Nonhelical region (NC4) gets lost; aa 50-244 TSP N-terminal gets lost; aa 96-98 STRAND 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 G @ chr6:71041157

 

Other external references
 

    GeneTests
  • GeneTests records for the COL9A1 gene
    Stickler Syndrome
    COL9A1-Related Multiple Epiphyseal Dysplasia
    COL9A1-Related Stickler Syndrome
    Multiple Epiphyseal Dysplasia, Dominant
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL9A1
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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