Rare Human Missense Variants can affect the Function of Disease-Relevant Proteins by Loss and Gain of Peroxisomal Targeting Motifs.

A statistically highly significant negative correlation between the score difference and the experimental measurements (log 10 K a app ratio, see Method 4.7) was obtained (Pearson’s r = −0.93, p < 0.001) suggesting that as relative affinity of the WT over the MT variant increases (log ratio will increase), the predicted score difference decreases ( Figure 6 B).

also in 132,142 other papers