Gene | Mutation | Amino acid change | Zygosity | SIFT score | SIFT_pred | Polyphen2_HDIV_score | Polyphen2_HDIV_pred | Polyphen2_HVAR_score | Polyphen2_HVAR_pred | MutationTaster_score | MutationTaster_pred | CADD_phred |
|---|
HFM1 | c.3470G>A | G > A | Heterozygous | 0 | D | 1 | D | 0.998 | D | 1 | D | 29.7 |
- “D” indicates that the mutation is damaging or deleterious. In SIFT (http://sift.bii.a-star.edu.sg/), mutations with values above 0.05 are predicted to be damaging. In Polyphen-2 (http://genetics.bwh.harvard.edu/pph2), higher scores predict the mutation to be more deleterious. In MutationTaster (http://www.mutationtaster.org/), the probability value ranges from 0 to 1, and a higher score (closer to 1) indicates a stronger prediction of disease. In Combined Annotation Dependent Depletion (CADD) (http://cadd.gs.washington.edu/), the suggested threshold for harmfulness of a single-nucleotide polymorphism (SNP) is a CADD_Phred score > 15
