Mutation | Amino acid change | Polyphen-2a | SIFTb | Mutation Tasterc | SNPs& GOd | ExAC (total)e | ExAC_EAf | 1000G_ALLg | 1000G_EAh |
|---|
c.C124T | p.Pro42Ser | Probably damaging (1) | Deleterious (0.004) | Disease causing (1) | Disease (0.990) | 0 | 0 | 0 | 0 |
- aPolyphen-2 (http://genetics.bwh.harvard.edu/pph2/). Prediction Scores range from 0 to 1 with high scores indicating probably or possibly damaging
- bSIFT, that is, 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, that is, a value close to 1 indicates a high “security” of the prediction
- dSNPs & GO (http://snps.biofold.org/snps-and-go/). Probability:disease probability (if > 0.5 mutation is predicted disease)
- eFrequency of variation in total of ExAC database
- fFrequency of variation in East Asian population of ExAC database
- gFrequency of variation in total of 1000 Genomes database (A Deep Catalog of Human Genetic Variation)
- hFrequency of variation in East Asian population of 1000 Genomes database
