Table 2 Predicted pathogenicity of missense ASXL1 variants generated using Alamut.

From: DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes

Sample

Protein Change (NM015338.5)

Predicted pathogenicity

SIFT (score)

PolyPhen-2

MutationTaster

CADD

SVM Score

DNAm signature classification

EX0789

p. Ala627Val

Tolerated (0.14)

Benign

Polymorphism

24.5

0.015

Negative

EX0731

p. Ser488Phe

Deleterious (0.02)

Probably Damaging

Disease Causing

24.3

0.06

Negative

EX0732

p. Arg397His

Tolerated (0.12)

Benign

Disease Causing

25

0.04

Negative

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