Mutation | Amino acid change | Polyphen-2a | SIFTb | Mutation Tasterc | SNPs&GOd | ExAC (total)e | ExAC (East Asian)f |
|---|
c.5557G > C | p.D1853H | Probably damaging (0.996) | Damaging (0.02) | Disease causing (0.9999) | Disease (0.831) | 1.666E-05 | 0.0002326 |
- aPolyphen-2 (http://genetics.bwh.harvard.edu/pph2/). Prediction Scores range from 0 to 1 with high scores indicating probably or possibly damaging
- bSIFT, i.e., Sorting Intolerant From Tolerant (http://sift.jcvi.org/). Scores vary between 0 and 1. Variants with scores close or equal to 0 are predicted to be damaging
- cMutation Taster (http://www.mutationtaster.org/). The probability value is the probability of the prediction, i.e., a value close to 1 indicates a high ‘security’ of the prediction
- dSNPs&GO (http://snps.biofold.org/snps-and-go/). Disease probability (if > 0.5 mutation is predicted Disease)
- eFrequency of variations in total of ExAC database
- fFrequency of variations in East Asian population of ExAC database
