Table 2.

VUS in RPS19 selected from population databases

		Population database (MAF)
DNA change	Protein change	1000 genomes	GnomAD	ExAC	EVS	Mutation taster	Mutation assessor	Polyphen‐2	Provean	SIFT	Condel
c.68A>G	p.Lys23Arg	Not reported	0.0001292	0.0001895	0.0002071	Disease causing score 26	Medium score 2.29	Benign score 0.097	Deleterious score −2.601	Damaging score 0.03	Probably damaging score 0.617
c.164C>T	p.Thr55Met	Not reported	0.0002261	0.0002734	0.0002478	Disease causing score 81	Medium score 2.08	Possibly damaging score 0.926	Neutral score −1.889	Tolerated score 0.06	Probably damaging score 0.647

MAF, minor allele frequency. RefSeq: NM_001022.3, NP_001013.1.

Mutation Taster: the score for amino acid substitutions reflects the physicochemical difference between the original and the mutated amino acid but does not influence the prediction. Mutation Assessor: the Functional Impact score is reported. PROVEAN: a score equal to or below the predefined threshold (−2.5) predicts a deleterious effect for the protein variant; a score above the threshold indicates that the variant is predicted to have a neutral effect. SIFT: the score predicts whether an amino acid substitution affects protein function, and ranges from 0.0 (deleterious) to 1.0 (tolerated).

Websites and software versions are shown in the Materials and Methods section.