Table 3:
In silico prediction of missense variants
| Family | Gene | Variant | SIFT/PROVEAN | POLYPHEN |
|---|---|---|---|---|
| A | PDGFRL | p.(R124H) | Damaging/Deleterious | |
| A | TGFA | p.(R127Q) | Tolerated/Neutral | |
| A | IL7R | p.(G215V) | Damaging/Deleterious | |
| B | PTPN23 | p.(F161L) | Tolerated/Deleterious | Neutral |
| B | PHB | p.(R43L) | Tolerated/Deleterious | Neutral |
| B | LRIG1 | p.(T152R) | Tolerated/Deleterious | Neutral |
| B | TET2 | p.(Y867H) | Damaging/Neutral | Deleterious |
| C | DPH1 | p.(P249R) | Damaging/Deleterious | |
| C | HIVEP3 | p.(R2241Q) | Damaging/Neutral | Neutral |
| C | PTPN13 | p.(T2381I) | Damaging/Neutral | Deleterious |
| C | LIG1 | p.(L335F) | Damaging/Deleterious | |
| D | RAB25 | p.(E20G) | Damaging/Deleterious | |
| D | APBB1 | p.(D254N) | Tolerated/Deleterious | Deleterious |
| E | POLD1 | p.(S479N) | Damaging/Deleterious |
Prediction of variant effect of the prediction tools used