Splice site impact

This is my variant hg19

5-1254700-C-T
TERT:c.3158-80G>A
NM_198253.3

SpliceAI predicts donor site gain (~0.49)

How can I predict what the consequence will be?

sites splice

• 1,447 views • link

updated 5.2 years ago by Emily

• written 5.2 years ago by Jng •

1 answer

Variant Effect Predictor may be useful: https://www.ensembl.org/info/docs/tools/vep/index.html

• 0 views • link

written 5.2 years ago by Ared445 •

Thank you. I found this to be an interesting tool.

Can I know if the consequence will be inframe or out of frame?

Can I determine if the last few exons downstream will be spliced out resulting in a loss of function to the protein?

• 0 views • link

written 5.2 years ago by Jng •

There is not the biological knowledge to make that prediction

• 0 views • link

written 5.2 years ago by Emily

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