Table 2 In silico scores and pathogenic prediction of novel MYH7 variants
From: Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy
Patient ID | Protein change | CADD (score/prediction) | PolyPhen-2 (score/prediction) | SIFT (score/prediction) | MetaRNN (score/prediction) | DynaMut (score/prediction) |
|---|---|---|---|---|---|---|
1 | p.Glu55Lys | 25.1/damaging | 0.264/benign | 0.011/damaging | 0.3973/benign | 0.57/stabilizing |
2, 3 | p.Tyr134His | 25.3/damaging | 0.920/probably damaging | 0/damaging | 0.9752/damaging | –1.23/ destabilizing |
4 | p.Ser148Arg | 3.1/benign | 0.778/possibly damaging | 0.012/damaging | 0.6805/damaging | –0.36/ destabilizing |
20 | p.Phe488Leu | 23.4/damaging | 0.012/benign | 0.016/damaging | 0.9151/damaging | –2.08/ destabilizing |
28 | p.Arg807Cys | 26.0/damaging | 0.959/probably damaging | 0/damaging | 0.9158/damaging | –0.49/ destabilizing |
34 | p.Gln1318Leu | 27.0/damaging | 0.998/probably damaging | 0.051/benign | 0.6946/damaging | 0.4/stabilizing |