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Predicted pathogenicity of the IGE SLC12A5 (KCC2) variants. See also Supplementary Table S2
| Variant Name | Predicted Pathogenicity | ||||
|---|---|---|---|---|---|
| mRNA (NM_020708.4) | mRNA (NP_065759) | Mutation Taster | Panther | SIFT | |
| c.2855 G>A | p.952 R>H | Disease causing* | P (probability): 0.7174 | No prediction data | Not tolerated |
| c.3145 C>T | p.1049 R>C | Disease causing* | P (probability): 0.9999 | Pdeleterious = 0.94634 | Not tolerated |
Predicted specifically to disrupt the function of the last cytoplasmic domain.
