TYR T88P - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!



(TYR Thr88Pro)

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

  • None available.



Other external references

  • Score: 0.991 (probably damaging)
    Web search results (14 hits -- see all)
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  • Type I- 95%
    ... 10767337 11738883 11269512 HBB P68871 T88P 88 VAR_002992 CAMKL (0.590) Valletta BRCA2 P51587 S1106R 1106 ... (dbSNP:rs17852032) 15489334 TYR P14679 S339G 339 VAR_007676 ...
  • Type III 95%
    ... (dbSNP:rs2066964) C17orf47 Q8NEP4 T88P 96 VAR_032122 AGC (0.815) ... ACACA binding and reduces BRIP1 binding 10486320 11301010 TYR P14679 E294G 292 VAR_021706 CMGC (0.941) CDK (0. ...
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Other in silico analyses

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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