Table 2.

Distribution of functional predictions across validated nsSNPs with MAF ≥0.01 in Caucasian populations (data obtained from stages VII and VIII) using Grantham, PolyPhen, and SIFT algorithms

ScorePrediction of functionalityPredictions for 3,666 nsSNPsPredictions for 3,009 nsSNPs in single mRNA genesPredictions meeting minimum inclusion criteria
Grantham
    0-50Conservative1,5441,2641,264
    51-100Moderately conservative1,5131,2411,241
    101-150Moderately radical407332332
    ≥151Radical202172172
No prediction
    Total3,6663,0093,009
PolyPhen
    0.00-0.99BenignN/A1,263706
    1.00-1.24BorderlineN/A349177
    1.25-1.49Potentially damagingN/A381215
    1.50-1.99Possibly damagingN/A427263
    ≥2.00Probably damagingN/A230162
No predictionN/A359
    Total3,0091,523
SIFT
    0.00-0.05IntolerantN/A583324
    0.051-0.10Potentially intolerantN/A176117
    0.101-0.20BorderlineN/A262198
    0.201-1.00TolerantN/A1,304987
No predictionN/A684
    Total3,0091,626
  • Abbreviation: N/A, not applicable.