3.
预测软件对SRD5A2基因c.608G > A (p.G203D)变异的分析结果
| 预测软件 | 得分/等级 | 是否有害 | “有害”的定义 |
| SIFT | 0.04 | 是 | 得分 < 0.05 |
| PROVEAN | -6.666 | 是 | ≤阈值(-2.5) |
| PolyPhen-2 | 1.000 | 是 | 得分0.447~0.909为可能有害；得分0.910~1.000为极有可能有害 |
| Align GVGD | C65 | 是 | 从C0~C65，预测致病性等级由低到高 |
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