Functional Scores filter

This filter can be added to filter chains in the software to provide functional scores based on SIFT, PolyPhen, and Grantham scores. SIFT and PolyPhen scores are predictions of the functional effect of a variant on a protein. A Grantham score attempts to predict the distance between two amino acids, in an evolutionary sense (lower is less distance, higher is greater distance).

Filter conditions include the ability to include or exclude SIFT, PolyPhen, and Gratham scores, and to set ranges for those scores. SIFT and PolyPhen ranges can be set from 0.0 to 1.0, and Grantham can be set from 0.0 to 215.0. In addition, the range boundary values can be included or excluded, and unannotated variants can be included or excluded in filtered analysis results.

The filter returns a functional score based on the three (or fewer) scores.