Missense variants
3 important questions on Missense variants
Which variants are likely to cause LoF?
Premature stopcodon and frame shift (but can be a gain of function)
Which variants are likelt to cause GoF?
Gene duplication, insertion in frame, genefusion
Which tools can you use to predict the impact of splice site variants and missense variants?
- Splice site variants: splice IA
- Missense variants: Alpha misssense (alphaflod for al missenses)
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