Research Article

Germline Mutation in KIF1Bβ Gene Associated with Loss of Heterozygosity: Usefulness of Next-Generation Sequencing in the Genetic Screening of Patients with Pheochromocytoma

Table 2

DANN pathogenicity score resulting from the simultaneous query of different in silico prediction tools.

DANN version 2014Score 0.9987

MutationTaster dbNSFP version 4.0Prediction disease causingAccuracy 1Converted rankscore 0.81
Mutation assessor dbNSFP version 4.0Prediction mediumScore 2.635Rankscore 0.7711
FATHMM-MKL dbNSFP version 4.0Coding prediction damagingCoding score 0.9891Coding rankscore 0.8853
FATHMM-XF dbNSFP version 4.0Coding prediction damagingCoding score 0.8661Coding rankscore 0.7854
LRT dbNSFP version 4.0Prediction deleteriousScore 0Converted rankscore 0.8433
DEOGEN2 dbNSFP version 4.0Prediction damagingScore 0.8068Rankscore 0.9513
EIGEN dbNSFP version 4.0Prediction pathogenicRaw coding 0.8034Raw coding rankscore 0.8632
EIGEN PC dbNSFP version 4.0Prediction pathogenicPC raw coding score 0.798PC raw coding rankscore 0.8966
SIFT dbNSFP version 4.0Prediction damagingScore 0.032, 0.03Converted rankscore 0.4539
SIFT4G dbNSFP version 4.0Prediction damagingScore 0.039, 0.04Converted rankscore 0.5111
PROVEAN dbNSFP version 4.0Prediction damagingScore -8.16, -8.3Converted rankscore 0.9698
REVEL dbNSFP version 4.0Prediction pathogenicScore 0.699Rankscore 0.8928
PrimateAI dbNSFP version 4.0Prediction damagingScore 0.8779Rankscore 0.9367
MetaSVM dbNSFP version 4.0Prediction damagingScore 0.186Rankscore 0.8567
MetaLR dbNSFP version 4.0Prediction damagingScore 0.5961Rankscore 0.8559
FATHMM dbNSFP version 4.0Prediction toleratedScore -0.9, -0.81, -0.89Converted rankscore 0.7489
MVP dbNSFP version 4.0Prediction uncertainScore 0.7537Rankscore 0.7514
MutPred dbNSFP version 4.0Score 0.66Rankscore 0.7978

The value range is 0 to 1, with 1 given to the variants predicted to be the most damaging (http://varsome.com/variant/hg19/kif1b%3Ac.4052C>T) (according to Quang et al. 2015, [26]).