Case Presentation: Functional Assessment of a CASR Variant Identified in a Patient with Hypercalcaemia Confirms Familial Hypocalciuric Hypercalcaemia in the Patient and a Sister Previously Misdiagnosed with Primary Hyperparathyroidism

Table 2

Bioinformatics data for the novel Leu34Pro CASR variant.

Variant	SIFT score	PolyPhen-2 HVAR score	CADD Phred score	MetaLR score	Mutation assessor rank score	FATHMM converted rank score	GERP++ RS rank score	SiPhy 29way logOdds rank score
NM_000388.4: c.101T>C: p.(Leu34Pro)	Deleterious (0.001)	Probably damaging (0.997)	Likely benign (27.6)	Deleterious (0.822)	High (0.936)	Deleterious (0.878)	0.782	0.709

Note that as the test variant is novel, the population frequency is not able to be determined. CADD score cutoff for “likely deleterious” is >30 (13).