New
- 3 new Sequence Ontology terms are reported for more detailed splice consequence annotation:
- splice_donor_5th_base_variant (SO:0001787)
- splice_donor_region_variant (SO:0002170)
- splice_polypyrimidine_tract_variant (SO:0002169)
New plugins
- ClinPred: adds pre-calculated scores from ClinPred which helps identify disease-relevant missense variants
- NMD: predicts whether a stop-gained variant will allow a transcript to escape nonsense-mediated decay
- PrimateAI: adds pre-calculated clinical impact scores of variants
Web VEP options
- Condel scores are no longer available via the VEP web interface as they have not been updated since 2014 and newer scores like CADD and REVEL are available