SKIV2L R324W - 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!



(SKIV2L Arg324Trp)

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

  • T @ chr6:31929737: 1.4% (109/7524) in EVS
  • T @ chr6:32037715: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 1.4% (109/7524)



GS19025 - var-GS19025-1100-36-ASM
het T @ chr6:32037716


Other external references

  • rs36038685
    Web search results (6 hits -- see all)
  • SKIV2L Gene - GeneCards | SKIV2 Protein | SKIV2 Antibody
    Gene Wiki entry for SKIV2L. Genomic Location. for SKIV2L gene (According to GeneLoc and/or ... SKIV2L Gene in genomic location: bands according to Ensembl, ...
  • Helicase SKI2W - Homo sapiens (Human)
    SKIV2L. Synonyms: DDX13, SKI2W, SKIV2, W. Organism. Homo sapiens (Human) ... R W: dbSNP rs36038685. VAR_055888. Natural variant. 765. 1. M I in a ...
  • UniProt: Q15477
    DT 15-JUL-1998, sequence version 2. DT 20-APR-2010, entry version 97. DE RecName: ... GC06Pn31916; -. DR GeneCards; GC06Po31918; -. DR HGNC; HGNC:10898; SKIV2L. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

Log in