Table 6.

Tools Predicting the Functional Consequence of Distinct Missense Variants Reported in the General Population in SLC51A and SLC51B.

		SLC51A		SLC51B
Prediction Tool	Classification of Variant Tolerability	Missense Variant	Missense Variant~Splice Region Variant	Missense Variant	Missense Variant~Splice Region Variant
SIFT	Tolerated	104	6	52	0
	Tolerated - Low Confidence	1	0	0	0
	Deleterious - Low Confidence	1	0	0	0
	Deleterious	120	7	37	3
PolyPhen-2	Benign	113	7	55	1
	Possibly Damaging	38	2	19	1
	Probably Damaging	75	4	15	1
REVEL	NA	0	2	0	1
	Likely Disease Causing	14	2	0	0
	Neutral	9	0	17	1
MutAs	NA	0	2	0	1
	Low	41	0	39	0
	Medium	176	11	33	1

Data were obtained from Ensembl version 92.38. Predictions of whether the observed missense variants in SLC51A and SLC51B are harmful to the function of the protein were made based on four tools: SIFT, Sorting Intolerant From Tolerant; PolyPhen-2, Polymorphism Phenotyping v2; REVEL, Rare Exome Variant Ensemble Learner; MutAs, MutationAssessor. NA, not available.