Rare variants in GPR3 in POI patients: a case series with review of literature

Table 2 Overview of the rare GPR3 variants identified in POI patients

Subject	cDNA change^a	Protein change	Minor allele frequency^b			Functional prediction^c
Subject	cDNA change^a	Protein change	ExAC	gnomAD	PGG.Han	SIFT	MutationTaster	CADD	DANN
F057	c.G772A	p.A258T	0.0001	0.0002	0	Deleterious	Disease causing	2.61	0.987
F086	c.C973T	p.R325C	0.0001	0.0002	0	Deleterious	Disease causing	5.121	0.999

^aThe GenBank accession number of GPR3 is NM_005281
^bMinor allele frequencies were estimated according to the ExAC (East Asian), gnomAD (East Asian) and PGG.Han databases
^cMutation assessment using the SIFT, MutationTaster, CADD and DANN tools. Higher CADD and DANN values indicate that mutations are more likely to have deleterious effects. The CADD threshold is usually set at 4 and 0.93 is used for the DANN cutoff

ISSN: 1757-2215