ITIH5L W1041S - 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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(ITIH5L Trp1041Ser)

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

  • G @ chrX:54781530: 6.4% (564/8761) in EVS
  • G @ chrX:54798254: 4.3% (4/92) in GET-Evidence
  • Frequency shown in summary reports: 6.4% (564/8761)



hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chrX:54781530






GS06985 - var-GS06985-1100-36-ASM
het G @ chrX:54798255


GS06994 - var-GS06994-1100-36-ASM
hom G @ chrX:54798255


Other external references

  • rs17316491
  • Score: 0.986 (probably damaging)
    Web search results (6 hits -- see all)
  • ITIH5L Gene - GeneCards | ITH5L Protein | ITH5L Antibody
    EntrezGene summary for ITIH5L: The protein encoded by this gene ... ITIH5L Gene in genomic location: bands according to Ensembl, locations according to (and ...
  • Inter-alpha-trypsin inhibitor heavy chain H5-like protein ...
    ITIH5L. ORF Names: UNQ6369/PRO21074. Organism. Homo sapiens (Human) ... W S: dbSNP rs17316491. VAR_032044. Natural variant. 1170. 1. G A: dbSNP rs35355718. ...
  • Type III 95%
    ... Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... seq Added kinase gruop(s) Added kinase family(s) Removed kinase gruop ...
  • UniProt: ITH5L_HUMAN
    DT 05-JUL-2004, sequence version 1. DT 02-MAR-2010, entry version 52. DE RecName: ... Flags: Precursor; GN Name=ITIH5L; ORFNames=UNQ6369/PRO21074; OS Homo ...

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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