TABLE 2.

Pathogenicity prediction for claudin‐16 mutation p.(Ala93Thr) using bioinformatics tools

Tool	PolyPhen‐2 a	Panther b	MutPred2 c	MutationTaster d	Fathmm‐XF e
Score	0.85	362	0.747	58	0.615
Significance	Possibly damaging	Possibly damaging	Probably pathogenic	Disease causing	Pathogenic

^aThe PolyPhen‐2 score varies from 0 to 1 Variants with scores in the range 0.85 to 1.0 are more confidently predicted to be damaging.

^bPanther measures the length of time (in millions of years, my) an amino acid position in the protein has been preserved. The longer a position has been preserved, the more likely that amino acid change will have a deleterious effect. The thresholds are: probably damaging (preservation time is greater than 450 my), possibly damaging (preservation time is between 200 my and 450 my), and probably benign (preservation time is less than 200 my).

^cThe MutPred2 prediction ranges from 0.0 and 1.0, in which a higher score indicates a greater propensity to be pathogenic.

^dThe MutationTaster score ranges from 0.0 to 215. It is derived from the Grantham Matrix for amino acid substitutions and shows the physicochemical difference between the original and the mutated amino acid.

^eFathmm‐XF predictions are given as p‐values in the range 0–1: values above 0.5 are predicted to be deleterious, while those below 0.5 are predicted to be neutral or benign.