COL2A1 P478L - 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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COL2A1 P478L

(COL2A1 Pro478Leu)

Short summary


Variant evidence
Computational -
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 @ chr12:48380213: 0.1% (14/10440) in EVS
  • A @ chr12:46666479: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.1% (14/10440)



GS18504 - var-GS18504-1100-36-ASM
het A @ chr12:46666480


Other external references

  • GeneTests records for the COL2A1 gene
    Stickler Syndrome
    Achondrogenesis Type 2
    Avascular Necrosis of Femoral Head, Primary
    COL2A1-Associated Stickler Syndrome
    COL2A1-Related Stickler Syndrome
    Kniest Dysplasia
    Osteoarthritis with Mild Chondrodysplasia
    Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
    Spondyloepimetaphyseal Dysplasia, Strudwick Type
    Spondyloepiphyseal Dysplasia
    Spondyloepiphyseal Dysplasia, Congenita
    Spondyloperipheral Dysplasia
    Type II Collagenopathies
  • Score: 0.912 (probably damaging)

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 4

Edit history

Gene search

"GENE" or "GENE A123C":

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