NOTCH1 Mutations in Aortic Stenosis: Association with Osteoprotegerin/RANK/RANKL

Table 5

Functional prediction of missense variants in NOTCH1 by sequence-based computational methods.

Mutation	E1305K	R1279H	D1267N
SIFT	D	T	D
Polyphen-2	T	T	D
LRT	D	D	D
Mutation Taster	D	D	D
Mutation Assessor	M	N	L
FATHMM	D	T	T
PROVEAN	D	T	D
CADD (>15)	29.0	23.5	28.5
GERP++ (>4.4)	4.64	4.03	5.23
PhyloP (>1.6)	0.84	0.85	0.85
SiPhy (>12.17)	16.49	13.63	17.78
dbNSFP	D	T	T

For SIFT, Polyphen-2, LRT, Mutation Taster, Mutation Assessor, FATHMM, PROVEAN, and dbNSFP (MetaSVM), we used the following abbreviations: D: damaging; T: tolerated; H: high; M: medium; L: low; N: neutral.