Enter a variant below to see its SpliceAI and Pangolin scores.
[more details]

Examples   (on hg38):
chr8   140300616   T   G
NM_000552.4(VWF):c.3797C>A (p.Pro1266Gln) [show more examples]
Genome version:
Score type:
Max distance:
SpliceAI-lookup/issues: issues or feature requests for this website. SpliceAI/issues: issues with the underlying SpliceAI model.

May 22, 2023
- changed defaults to 'masked' and max distance to 500bp
- retired Illumina precomputed scores since they were created using Gencode v24 and max distance = 50bp and so can differ from computed scores which are based on the latest Gencode.

May 12, 2023
- added REF & ALT score columns to show SpliceAI's underlying predictions for each haplotype (using SpliceAI PR by @h-joshi). The Δ  score column is the difference between these two scores.
- added support for MNPs (see issue #1 & SpliceAI PR by @kdahlo)
- updated to Gencode v43 (was previously on v42)

[show older updates]

Related web tools:
liftover: for variants/positions/intervals (hg19 <=> hg38 <=> T2T)
CMA search: search OMIM by interval, gene or phenotype