VPS13B G3407R - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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VPS13B G3407R

(VPS13B Gly3407Arg)

Short summary


Variant evidence
Computational 3

Variant Effect Predictor (Ensembl ):
Mutation Tasting Prediction: Polymorphism p value: 0.999455; no protein features affected.
GVGD: GV 125.13; GD 0.00; Class C0
Multi-alignment of lcl|37679 sp|Q7Z7G8-2|VP13B_HUMAN Isoform 2 of Vacuolar protein sorting-associated protein 13B [Homo sapiens] with: XP_001151183.1 [Pan troglodytes] XP_001151119.1 [Pan troglodytes] XP_001096476.1 [Macaca mulatta] XP_001096361.1 [Macaca mulatta] XP_002759404.1 [Callithrix jacchus] XP_002914031.1 [Ailuropoda melanoleuca] XP_001915462.1 [Equus caballus] XP_002692837.1 [Bos taurus] XP_855933.1 [Canis familiaris] XP_002692836.1 [Bos taurus]

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

  • A @ chr8:100865836: 12.1% (1300/10758) in EVS
  • Frequency shown in summary reports: 12.1% (1300/10758)



hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr8:100865836


hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr8:100865836



hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom A @ chr8:100865836


hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr8:100865836


hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr8:100865836


hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr8:100865836


hu728FFF - PGP11 (hu728FFF) build 36, substitution variants
het A @ chr8:100935012


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr8:100865836


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr8:100865836


huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr8:100865836


huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr8:100865836


huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr8:100865836


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr8:100865836


Other external references

  • rs6468694
    Web search results (0 hits -- see all)

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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