Missense variants validated by sequencing.
- Fei Yuan (24924)
- Erik L. Snapp (248461)
- Phyllis M. Novikoff (513574)
- Sylvia O. Suadicani (424633)
- David C. Spray (294210)
- Barry Potvin (513575)
- Allan W. Wolkoff (513576)
- Pamela Stanley (92084)
Publication date
January 2014
DOIAbstract
1<p>SIFT score ranges from 0 to 1. The amino acid substitution is predicted “damaging (D)” if the score is < = 0.05, and “tolerated (T)” if the score is >0.05.</p>2<p>Polyphen-2 score ranges from 0 to 1. The amino acid substitution is predicted “probably damaging (D)” if the score is between 0.957 and 1; “possibly damaging (P)” if the score is between 0.453 and 0.956; “benign (B)” if it is between 0 and 0.452.</p
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