Table 1.

The rs IDs, associated residue-variant substitutions and predicted variant consequences of the identified $\alpha$-carbonic anhydrase VIII single nucleotide variants (SNVs). Clinical significance data obtained from Clinvar. VAPOR was used to conduct I-Mutant and MUpro predictions.

	SNV
	S100A	S100L	S100P	E109D	G162R	R237Q
rs ID	rs267606695	rs149391728	rs267606695	rs7464181	rs1421833180	rs387906598
MAF	0.01	<0.01	<0.01	0.50	<0.01	<0.01
I-Mutant (ΔΔG)	−0.66	−0.31	−0.27	−0.16	−0.84	−0.58
MUPro (ΔΔG)	−1.23	−0.17	−1.39	−0.41	−0.54	−1.05
Stability	Decrease	Decrease	Decrease	Decrease	Decrease	Decrease
Clinical significance	Pathogenic	Benign	Pathogenic	Benign	Pathogenic	Pathogenic
z-DOPE score	−1.374	−1.381	−1.41	−1.436	−1.357	−1.393