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Functional predictions of FH p.Glu404Asp by six different software packages
| Gene name | FH |
|---|---|
| Amino acid change | Glu404Asp |
| MAF in 1000 Genome | 0.00 |
| MAF in ExAC | 0.00 |
| Protein-binding sites | Tetramer formation |
| SIFT | 0.001 Damaging |
| Polyphen-2 | 0.958 Probably damaging |
| Provean | −2.94 Deleterious |
| Mutationassessor | 2.925 Medium |
| Mutationtaster | Disease causing |
| Fathmm (inherited disease) | −6.29 Damaging |
MAF minor allele frequency
