TCOF1 A588P - 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 A588P

(TCOF1 Ala588Pro)


Short summary

 

Variant evidence
Computational -

Variant Effect Predictor (Ensembl ):
PolyPhen=probably_damaging(0.975)
Mutation Tasting Prediction: Polymorphism p value: 0.286558; no protein features affected.
SIFT: Affect protein function 0.03
GVGD: GV 99.13; GD 1.70; Class C0
Multi-alignment of NP_000347.2 [Homo sapiens] with: XP_591291.4 [Bos taurus] XP_001503770.1 [Equus caballus] XP_002710210.1 [Oryctolagus cuniculus] XP_002816130.1 [Pongo abelii] EDM14575.1 [Rattus norvegicus] NP_001035041.1 [Macaca mulatta]

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 C @ chr5:149735937

 

Other external references
 

    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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