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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Curation:
Currentness:

TCOF1 A665P

(TCOF1 Ala665Pro)


Short summary

 

Variant evidence
Computational -

Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.07);
PolyPhen=probably_damaging(0.889);
Condel=deleterious(0.908)
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 -
 

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

  • 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)

Publications
 

Genomes
 

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
 

    dbSNP
  • rs2071240
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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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