VPS13B G3432R - 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:

VPS13B G3432R

(VPS13B Gly3432Arg)


Short summary

 

Variant evidence
Computational 5

Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.76);
PolyPhen=benign(0.145);
Condel=neutral(0.148)
Mutation Tasting Prediction: Polymorphism p value: 0.999455; no protein features affected.
GVGD: GV 125.13; GD 0.00; Class C0
Multi-alignment of Q7Z7G8.2 vacuolar protein sorting-associated protein 13B isoform 5 [Homo sapiens] with: XP_001151119.1 [Pan troglodytes] XP_001096361.1 [Macaca mulatta] XP_001151183.1 [Pan troglodytes] XP_001096476.1 [Macaca mulatta] XP_002759404.1 [Callithrix jacchus] XP_001915462.1 [Equus caballus] XP_002914032.1 [Ailuropoda melanoleuca] XP_539102.2 [Canis familiaris] XP_002692836.1 [Bos taurus] XP_002914031.1 [Ailuropoda melanoleuca]

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

  • A @ chr8:100935011: 11.7% (15/128) in GET-Evidence
  • Frequency shown in summary reports: 11.7% (15/128)

Publications
 

Genomes
 

 

 

hu43860C

 

 

huAE6220

 

huE80E3D

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr8:100935012

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr8:100935012

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr8:100935012

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr8:100935012

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr8:100935012

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr8:100935012

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr8:100935012

 

Other external references
 

    dbSNP
  • rs6468694
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.966 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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