TCOF1 A665P - 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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(TCOF1 Ala665Pro)

Short summary


Variant evidence
Computational -

Variant Effect Predictor (Ensembl ):
Mutation Tasting Prediction: Polymorphism p value: 0.824159; no protein features affected
SIFT: Affect protein function 0.00
GVGD: GV 00; GD 26.87; Class C25
Multi-alignment of Q13428.3 Treacher Collins-Franceschetti syndrome 1, isoform CRA_g [Homo sapiens] with: XP_002816130.1 [Pongo abelii] NP_001035041.1 [Macaca mulatta] XP_001503770.1 [Equus caballus] XP_591291.4 [Bos taurus] XP_002710210.1 [Oryctolagus cuniculus] NP_001003057.1 [Canis lupus familiaris] XP_002918190.1 [Ailuropoda melanoleuca]

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

  • C @ chr5:149755744: 5.8% (622/10756) in EVS
  • C @ chr5:149735936: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 5.8% (622/10756)



hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr5:149755744


hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr5:149755744




hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het C @ chr5:149755744



hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr5:149755744


GS06985 - var-GS06985-1100-36-ASM
het C @ chr5:149735937


GS06994 - var-GS06994-1100-36-ASM
het C @ chr5:149735937


GS07357 - var-GS07357-1100-36-ASM
het C @ chr5:149735937


GS18940 - var-GS18940-1100-36-ASM
het C @ chr5:149735937


Other external references

  • rs2071240
    Web search results (0 hits -- see all)

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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