Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis

Table 2

nsSNPs predicted as deleterious by SIFT and PolyPhen2.

ID of nsSNPs	AA position	SIFT	Score	PolyPhen2	Score	MAF
rs199902030	D336N	Deleterious	0.003	Probably damaging	1	<0.001 (T)
rs200149541	T153N	Deleterious	0.001	Probably damaging	1
rs372499913	G107D	Deleterious	0	Probably damaging	1
rs267605221	P249S	Deleterious	0.007	Probably damaging	1
rs374941368	S19N	Deleterious	0.004	Probably damaging	0.981
rs375717418	R301W	Deleterious	0.004	Probably damaging	1	<0.001 (T)
rs80008675	D41E	Deleterious low	0.016	Probably damaging	0.982	0.017 (T)
rs116596858	P181S	Deleterious low	0.007	Probably damaging	0.906	<0.001 (A)
rs116675104	R167W	Deleterious low	0.017	Probably damaging	0.990	0.003 (A)
rs121908250	C75S	Deleterious low	0.002	Probably damaging	0.981
rs121908251	C102S	Deleterious low	0	Probably damaging	0.999
rs121908252	G327R	Deleterious	0	Probably damaging	1
rs121908254	C174R	Deleterious	0.001	Probably damaging	0.984
rs147974432	T144M	Deleterious low	0.002	Probably damaging	1	<0.001 (A)
rs192224843	Q353R	Deleterious	0.011	Probably damaging	0.993	<0.001 (C)
rs115982879	R118L	Deleterious low	0.001	Probably damaging	0.910	<0.001 (T)
rs139059968	K355T	Deleterious	0.002	Probably damaging	0.883	<0.001 (G)
rs141125426	D397Y	Deleterious low	0.002	Probably damaging	0.828
rs147208835	R125W	Deleterious low	0	Probably damaging	0.995
rs147681552	P290L	Deleterious	0.005	Probably damaging	1	<0.001 (A)
rs148498685	P87S	Deleterious low	0.002	Probably damaging	1
rs149531418	G330E	Deleterious	0	Probably damaging	0.999
rs149792489	A96G	Deleterious low	0.004	Probably damaging	1	<0.001 (C)

Threshold. SIFT: <0.05; PolyPhen2: >0.8 (PSIC > 0.5) or Benign (PSIC < 0.5).