Gene | RefSeq Isoform | Variant/Coordinatesa | SIFT Score (Prediction) | Polyphen2_HDIV Score (Prediction) | Polyphen2_HVAR Score (Prediction) |
---|---|---|---|---|---|
Mammalian Target of Rapamycin (MTOR) | NM_004958 | Chr1:11190804C>T c.5395G>A p.E1799K | 0.133 (Tolerated) | 0.878 (Possibly Damaging) | 0.463 (Possibly Damaging) |
Oligophrenin-1 (OPHN1) | NM_002547 | ChrX:67272394C>T c.2363G>A p.R788Q | 0.130 (Tolerated) | 0.995 (Probably Damaging) | 0.457 (Possibly Damaging) |