| Bioinformatic parameter type . | Parameter . | Source . |
|---|---|---|
| Minor allele frequency | 0.000000 | ExAC (Lek et al., 2016) |
| No. of HCM cases in OMGL and LMM | 13 | ACGV (Walsh et al., 2017) |
| SIFT score (damaging if <0.05) | 0.001/damaging | SIFT (Sim et al., 2012) |
| PolyPhen-2 score (pathogenic if >0.5) | 0.013/benign | PolyPhen-2 (Adzhubei et al., 2010) |
| PROVEAN score (pathogenic if <-2.5) | −2.659/deleterious | PROVEAN (Choi et al., 2012) |
| Bioinformatic parameter type . | Parameter . | Source . |
|---|---|---|
| Minor allele frequency | 0.000000 | ExAC (Lek et al., 2016) |
| No. of HCM cases in OMGL and LMM | 13 | ACGV (Walsh et al., 2017) |
| SIFT score (damaging if <0.05) | 0.001/damaging | SIFT (Sim et al., 2012) |
| PolyPhen-2 score (pathogenic if >0.5) | 0.013/benign | PolyPhen-2 (Adzhubei et al., 2010) |
| PROVEAN score (pathogenic if <-2.5) | −2.659/deleterious | PROVEAN (Choi et al., 2012) |
ACGV, Atlas of Cardiac Genetic Variation; ExAC, Exome Aggregation Consortium; LMM, Laboratory of Molecular Medicine; OMGL, Oxford Molecular Genetics Laboratory; PolyPhen-2, Polymorphism Phenotyping v2; PROVEAN, Protein Variation Effect Analyzer; SIFT, Sorting Intolerant From Tolerant.