Table 2.

KIFBP missense variants characteristics and classification

cDNA	Protein	Effect	CADD score	DANN score	GERP++ NR	GERP++ RS	GERP++ RS rank score	MetaLR pred	MetaLR score	MetaSVM pred	MetaSVM score	MutationTaster pred	MutationTaster score	Fathmm‐MKL coding pred	Fathmm‐MKL coding score	gnomAD exomes AC	gnomAD exomes AF	gnomAD genomes AC	gnomAD genomes AF
NM_015634.4:c.68A>G	NP_056449.1:p. Glu23Gly	Missense	28.7	0.998	5.73	5.73	0.896	T	0.1142	T	0.831	D	1	D	0.877	420	0.001707	181	0.005845
NM_015634.4:c. 565C>T	NP_056449.1:p. Pro189Ser	Missense	18.03	0.982	5.79	3.85	0.433	T	0.043	T	1.047	D	0.997	D	0.553	0	0	0	0
NM_015634.4:c.1279A>G	NP_056449.1:p. Ser427Gly	Missense	28.1	0.998	5.62	5.62	0.856	T	0.462	T	0.013	D	1	D	0.993	6	2.44E‐05	2	6.46E‐05

Abbreviations: A, disease‐causing automatic; cDNA, complementary DNA; D, disease causing; T, tolerated.