Are there dedicated in-silico tools that are good to predict the effect of splice site muations?

27 July 2018 1 6K Report

As per the question I suspect splice mutations are less well picked up by things like VEP. Does anyone have any good resources so you can assess the pathogenicity of possible splice site variants?

Florian Barthélémy

Actually there are several websites that you can use with different levels of predictability and level of confidence but I like the most these two:

http://umd-predictor.eu/single_results.php

http://genetics.bwh.harvard.edu/pph2/

Best,

Florian

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