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Table 3 In silico predicting results for the two variants

From: A novel somatic mutation in POLE exonuclease domain associated with ultra-mutational signature and MMR deficiency in endometrial cancer: a case report

 

POLE p.T278K

POLE p.T278M

POLE -score

4

3

Mutation taster

Disease causing

Disease causing

PolyPhen-2

Probably damaging (score = 1.000)

Probably damaging (score = 1.000)

PROVEAN

Deleterious (score=-5.29)

Deleterious (score=-5.23)

PANTHER

Probably damaging

Probably damaging

SNAP2

Effect

Effect

SIFT

Damaging (score = 0.001)

Damaging (score = 0.001)