Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes

Table 2

Summary of the nonsynonymous variants identified in patients with CVID and IgAD.

Variants	dbSNP	MAF (ExAC)	ClinVar	PolyPhen score
D41G	rs763197017	T < 0.0001	VUS	0.995, probably damaging
R72H	rs55916807	T = 0.0017	VUS	0.003, benign
I87N	rs72553877	T < 0.0001	VUS	0.986, probably damaging
C104Y	rs72553879	A < 0.0001	VUS	1.000, probably damaging
C104R	rs34557412	C = 0.003	Pathogenic allele	1.000, probably damaging
P151L	rs200037919	A < 0.0001	VUS	0.728, possibly damaging
C172Y	rs751216929	A < 0.0001	VUS	0.985, probably damaging
A181E	rs72553883	A = 0.005	Pathogenic allele	0.890, possibly damaging
G190A	Not described	n.d.	VUS	0.989, probably damaging
R202H	rs104894649	A < 0.0001	VUS	0.474, possibly damaging

MAF: minor allele frequency.
MAF source: Exome Aggregation Consortium (ExAC).
VUS: Variants of Uncertain Significance.