Skip to main content
. 2016 Aug 16;6:31463. doi: 10.1038/srep31463

Table 2. Prediction of functional effects of the SNPs.

Metabolites SNP Gene Allele Residue change CADD
polyphen 2
Provean
SIFT
impact phred score prediction score prediction (cutoff = 0.05) score prediction score
asparagine rs8012505 ASPG C > G S344R Moderate, modifier 15.87 probably damaging 0.988 Damaging 0.016 Damaging 0.03
proline rs5747933 PRODH G > T T275N Moderate, modifier 7.274 no data   Tolerated 0.636 Tolerated 0.5
phenyl- alanine rs118092776 PAH C > T R53H Moderate, modifier 17.68 no data   Damaging 0.007 Damaging 0.01
glycine rs1047891 CPS1 C > A T1406N Moderate, modifier 14.03 benign 0.009 Tolerated 0.235 Tolerated 0.25
formate rs1801133 MTHFR C > T A222V Moderate 21.9 probably damaging 0.998 Deleterious −3.76 Damaging 0.05
creatinine rs820336 MYLK G > A intron Modifier 4.782